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Preimplantation Genetic Testing

for Monogenic Single Gene Defects (PGT-M)

PGT-M detects genetic conditions prior to pregnancy, including autosomal dominant, recessive, X-linked, and de novo conditions, which can help at-risk couples have children free of their family’s genetic disease(s).

Understanding Single Gene Disorders

Single gene disorders are caused by an alteration (mutation) in a specific gene.

Single gene disorders are hereditary, thus, individuals with a family history of a single gene disorder may be at risk for passing the condition onto their children.

Examples of childhood onset single gene disorders include cystic fibrosis, sickle-cell anemia, Tay-Sachs disease, Duchenne muscular dystrophy, Fragile X syndrome, spinal muscular atrophy (SMA).

Examples also include adult onset disorders like heritable cancers (BRCA ½; colon cancer; neurofibromatosis), neurodegenerative disorders (Huntington’s disease, early onset alzheimer disease) and Cardiac Disorders (long Q-T Syndrome).

Benefits of PGT-M

PGT-M, formerly known as PGD (preimplantation genetic diagnosis), refers to genetic testing on embryos before they are implanted in conjunction with an In Vitro Fertilization (IVF) cycle. These tests are the only way to determine if an embryo is predicted to be at risk of a genetic condition.

PGT-M allows selection of an embryo that does not have a genetic disorder, as well as reduces the possibility of being faced with a difficult decision about the outcome of a pregnancy following abnormal prenatal test results once achieving a clinical pregnancy.

By testing for a specific inherited genetic condition (such as cystic fibrosis, Tay-Sachs disease or muscular dystrophy), healthy embryos can be identified, then recommended for transfer, to avoid the risk of having a child born with that genetic condition.

PGT-M is customized for each individual and can be performed for nearly all single gene disorders, so long as the specific genetic mutation is known. A list of the conditions for which RGI has previously performed testing can be found below.

Single gene testing can be combined with PGT-A and in conjunction with PGT-HLA, if needed.

Indications for PGT-M

Couples with a Personal or Family History of a Genetic Condition and Risk of Passing it on to their Children
Families with a Child in Need of an HLA-matched Bone Marrow or Cord Blood Transplant
Couples Identified to be Carriers with a Risk of having Offspring with a Genetic Disorder
Beginning with polar body removal, Reproductive Genetic Innovations has pioneered technology for PGT-M since its inception in 1989, RGI remains one of the most active centers offering preimplantation genetic testing in the world. Our laboratory staff has extensive experience in current, state-of-the-art PGT-M techniques. RGI can customize and develop novel processes as necessary.
Counseling + Testing Plan:

Our scientists and genetic counselors will work with you and your physician to determine the optimal testing strategy for your case, based on your individual needs.

PGT-M Set-Up:

Due to the limited amount of DNA that is available in a single cell, an individualized testing plan (“PGT-M Set-Up”) is developed for each couple before they begin their IVF cycle. Creating the PGT-M Set-Up requires a DNA sample from each partner and may require additional DNA samples from family members.

IVF + Embryo Biopsy:

PGT-M is performed by removing and testing one or more cells from the developing embryo during the IVF cycle. This is known as an embryo biopsy. In most cases, after a period of five or six days in the lab, the embryo grows to a stage of development we call the Blastocyst and will contain around 100 cells. At this stage an embryologist will remove or biopsy a few cells from the outer layer of the embryo. This outer layer develops into part of the placenta, not the internal organ of the developing embryo.

PGT Testing:

Once the Set-Up is completed, PGT-M for single gene disorders can be performed, most commonly, by analysis of trophectoderm. The cells that are biopsied are analyzed using a technique called polymerase chain reaction (PCR). RGI also utilizes DNA “linked markers” (a method of DNA fingerprinting), to optimize the accuracy of PGT-M results.

If indicated, we can also perform testing for more than one single gene disorder and/or a chromosomal rearrangement on the same sample. Intracytoplasmic sperm injection (ICSI) is required when PGT-M is performed for single gene disorders, in order to reduce the risk of sperm contamination of the embryonic cells tested.

In PGT-M for a single gene disorder accuracy of the testing varies depending upon the genetic disorder, and the number of unique linked markers in the family. Accuracy may vary from embryo to embryo within a given cycle. Diagnosis is highly accurate with these contemporary technologies.

Results + Embryo Selection:

Typically, PGT results are known within 10 business days and are reported directly to the IVF physician. Once results are understood, embryo selection can determine the most suitable for transfer after thawing. Remaining frozen embryos are kept cryo-preserved and available for future embryo transfer.

List of Diseases

Reproductive Genetic Innovations can perform Preimplantation Genetic Testing for Monogenic / Single Gene Defects for essentially any single gene disorder for which the mutation is known, including very rare conditions. The list of single gene disorders for which RGI has previously performed testing can be found below. RGI continues to add new disorders to this list.

If the disease for which you are interested in pursuing PGT-M is not listed, our genetic counselors can review your genetic reports to determine if testing is feasible. RGI will assess the significance of a report detecting a “Variant of Unknown Significant” (VUS). PGT-M may be applicable in the absence of known pathogenic mutations.

Single Gene Disorders tested by PGT-M
Gene Name

If the disease for which you are interested in pursuing PGT-M is not listed, we are happy to review your genetic reports to determine if testing is feasible.

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3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
HIBCH
3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D
MCCC2
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL
SERAC1
ACHONDROPLASIA; ACH
FGFR3
ACHROMATOPSIA 2; ACHM2
CNGA3
ACHROMATOPSIA 3; ACHM3
CNGB3
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
NPR2
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY
ACADM
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
ACADS
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
ACADVL
ADADENOSINE DEAMINASE DEFICIENCY; ADA
ADA
ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD
APRT
ADENYLOSUCCINASE DEFICIENCY; ADSLD
ADSL
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
CYP21A2
ADRENOLEUKODYSTROPHY; ALD
ABCD1
AGAMMAGLOBULINEMIA, X-LINKED; XLA
BTK
AICARDI-GOUTIERES SYNDROME 1; AGS1
TREX1
AICARDI-GOUTIERES SYNDROME 2; AGS2
RNASEH2B
AICARDI-GOUTIERES SYNDROME 5; AGS5
SAMHD1
ALAGILLE SYNDROME 1; ALGS1
JAG1
ALBINISM, OCULAR, TYPE I; OA1
GPR143
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
TYR
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
OCA2
ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
TYRP1
ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
SLC16A2
ALOPECIA UNIVERSALIS CONGENITA; ALUNC
HR
ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD
SERPINA1
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX
ATRX
ALPORT SYNDROME, AUTOSOMAL DOMINANT
Col4A3
ALPORT SYNDROME, X-LINKED; ATS ALPORT SYNDROME, X-LINKED; ATS
COL4A5
ALZHEIMER dISEASE 3
PSEN1
ALZHEIMER dISEASE 4
PSEN2
ALZHEIMER dISEASE; AD
APP
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
MPL
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
TTR
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4
SETX
ANDROGEN INSENSITIVITY SYNDROME; AISANDROGEN INSENSITIVITY SYNDROME; AIS TY SYNDROME; AIS
AR
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
G6PD
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2
SLC25A38
ANEUPLOIDY BY NGS
ANGELMAN SYNDROME; AS
UBE3A
ANGIOEDEMA, HEREDITARY, TYPE I; HAE1
C1NH
ANIRIDIA; AN
PAX6
ANTITHROMBIN III DEFICIENCY; AT3D
SERPINC1
AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6
ACTA2
AORTIC VALVE dISEASE 1; AOVD1
NOTCH1
ARGININOSUCCINIC ACIDURIA
ASL
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
TMEM43
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
PKP2
ARTERIAL TORTUOSITY SYNDROME; ATS ARTERIAL TORTUOSITY SYNDROME; ATS
SLC2A10
ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
MYH3
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
TNNT3
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
TNNI2
ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
PIEZO2
ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9
FBN2
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1
VPS33B
ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
SAMD9L
ATAXIA-TELANGIECTASIA; AT
ATM
ATELOSTEOGENESIS, TYPE II; AO2
SLC26A2
AURICULOCONDYLAR SYNDROME 2; ARCND2
PLCB4
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I,
AIRE
AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1
PITX2
BARDET-BIEDL SYNDROME 10; BBS10
BBS10
BARDET-BIEDL SYNDROME 2; BBS2
BBS2
BARDET-BIEDL SYNDROME 4; BBS4
BBS4
BARE LYMPHOCYTE SYNDROME, TYPE II
RFX5
BARTH SYNDROME; BTHS
TAZ
BARTTER SYNDROME, TYPE 3; BARTS3
CLCNKB
BASAL CELL NEVUS SYNDROME; BCNS (GORLIN)
PTCH1
BENIGN CHRONIC PEMPHIGUS; BCPM
ATP2C1
BETA-THALASSEMIA
HBB
BETA-UREIDOPROPIONASE DEFICIENCY; UPB1D
UPB1
BIOTINIDASE DEFICIENCY
BTD
BIRT-HOGG-DUBE SYNDROME; BHD
FLCN
BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16
ITGB3
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
FOXL2
BLOOD GROUP--KELL-CELLANO SYSTEM
KEL
BLOOM SYNDROME; BLM
RECQL3
BRACHYDACTYLY, TYPE B1; BDB1
ROR2
BRANCHIOOCULOFACIAL SYNDROME; BOFS
TFAP2A
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY
CHEK2
BREAST CANCER
PALB2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
BRCA2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3
RAD51C
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
SOX9
CAMURATI-ENGELMANN dISEASE; CAEND
TGFB1
CANAVAN dISEASE
ASPA
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCYCPS I DEFICIENCY
CPS1
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
SCO2
CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4
MAP2K2
CARDIOMYOPATHY, DILATED, 1A; CMD1A
LMNA
CARDIOMYOPATHY, DILATED, 1DD; CMD1DD
RBM20
CARDIOMYOPATHY, DILATED, 1E; CMD1E
SCN5A
CARDIOMYOPATHY, DILATED, 1G; CMD1G
TTN
CARDIOMYOPATHY, DILATED, 1P; CMD1P
PLN
CARDIOMYOPATHY, DILATED, 1R; CMD1R
ACTC1
CARDIOMYOPATHY, DILATED, 1S; CMD1S
MYH7
CARDIOMYOPATHY, DILATED, 1Z; CMD1Z
TNNC1
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA
DSP
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
TNNT2
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26
FLNC
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
MYBPC3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
TNNI3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
MYL3
CARNEY COMPLEX, TYPE 1; CNC1
PRKAR1A
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
SLC22A5
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CPT2
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD
SLC25A20
CARTILAGE-HAIR HYPOPLASIA; CHH
RMRP
CEBALID SYNDROME; CEBALID
MN1
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS
PHOX2B
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT
NOTCH3
CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
SLC6A8
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2
TPP1
CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
CTSD
CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
CLN3
CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
CLN5
CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
CLN6
CHARCOT-MARIE-TOOTH dISEASE, AXONAL, TYPE 2A2; CMT2A2
MFN2
CHARCOT-MARIE-TOOTH dISEASE, AXONAL, TYPE 2B; CMT2B
RAB7ARAB7A
CHARCOT-MARIE-TOOTH dISEASE, AXONAL, TYPE 2E; CMT2E
NEFL
CHARCOT-MARIE-TOOTH dISEASE, AXONAL, TYPE 2F; CMT2F
HSPB1
CHARCOT-MARIE-TOOTH dISEASE, DEMYELINATING, TYPE 1A; CMT1A
PMP22
CHARCOT-MARIE-TOOTH dISEASE, DEMYELINATING, TYPE 1B; CMT1B
MPZ
CHARCOT-MARIE-TOOTH dISEASE, DOMINANT INTERMEDIATE C; CMTDIC
YARS
CHARCOT-MARIE-TOOTH dISEASE, TYPE 4C; CMT4C CHARCOT-MARIE-TOOTH dISEASE, TYPE 4C; CMT4C
SH3TC2
CHARCOT-MARIE-TOOTH dISEASE, X-LINKED, 1; CMTX1
GJB1
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2
ABCB11
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3
ABCB4
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
ARSE
CHOREOACANTHOCYTOSIS; CHAC
GNA14
CHOROIDEREMIA; CHM
CHM
CILIARY DYSKINESIA, PRIMARY, 15; CILD15
CCDC40
CILIARY DYSKINESIA, PRIMARY, 3; CILD3
DNAH5
CITRULLINEMIA, CLASSIC
ASS1
CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
SLC25A13
CLEIDOCRANIAL DYSPLASIA; CCD
RUNX2
COCKAYNE SYNDROME A; CSA
ERCC8
CODAS SYNDROME
LONP1
COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1
COQ2
COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7
COQ4
COHEN SYNDROME; COH1
VPS13B
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1COLON CANCER, FAMILIAL NONPOLYPOSIS
MSH2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
MLH1
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5
MSH6
COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA
ACSF3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
PNPT1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33
C1QBP
CONE-ROD DYSTROPHY 6; CORD6
GUCY2D
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG
NGLY1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
PMM2
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
SLC35C1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L
COG6
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
ALG1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
RFT1
CORNEAL DYSTROPHY, AVELLINO TYPE; CDA
TGFBI
COWDEN SYNDROME 1; CWS1
PTEN
CRANIOECTODERMAL DYSPLASIA 2; CED2
WDR35
CRANIOFRONTONASAL SYNDROME; CFNS CRANIOFRONTONASAL SYNDROME; CFNS
EFNB1
CRANIOSYNOSTOSIS 2; CRS2
MSX2
CREUTZFELDT-JAKOB dISEASE; CJD
PRNP
CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1
CRLF1
CROUZON SYNDROME
FGFR2
CURRARINO SYNDROME
MNX1
CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
ELN
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A
FBLN4
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B
PYCR1
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
ALDH18A1
CYSTIC FIBROSIS; CF
CFTR
CYSTINOSIS, NEPHROPATHIC; CTNS
CTNS
DANON dISEASE
LAMP2
DARIER-WHITE dISEASE; DAR
ATP2A2
D-BIFUNCTIONAL PROTEIN DEFICIENCY
HSD17B4
DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B
GJB3
DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B
GJB6
DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5
DFNA5
DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
MYO15A
DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8
TMPRSS3
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
GJB2
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
DSPP
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
AVPR2
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
INS
DIAMOND-BLACKFAN ANEMIA 1; DBA1
RPS19
DIAMOND-BLACKFAN ANEMIA 2; DBA2
RPS20
DIAMOND-BLACKFAN ANEMIA 3; DBA3
RPS24
DIAMOND-BLACKFAN ANEMIA 5; DBA5
RPL35A
DIAMOND-BLACKFAN ANEMIA 9; DBA9
RPS10
DIGEORGE SYNDROME; DGS
TBX1
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
DLD
DONNAI-BARROW SYNDROME
LRP2
DONOHUE SYNDROME
INSR
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3
TINF2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2 DYSKERATOSIS CONGENITA; DKCA2
TERT
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5; DKCB5
RTEL1
DYSKERATOSIS CONGENITA, X-LINKED; DKCX
DKC1
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD
DEAF1
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
TOR1A
DYSTONIA 11, MYOCLONIC; DYT11
SGCE
DYSTONIA 28, CHILDHOOD-ONSET; DYT28
KMT2B
DYSTONIA 3, TORSION, X-LINKED; DYT3
TAF1
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
EDAR
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED
EDA
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
TP63
EHLERS-DANLOS SYNDROME, CLASSIC TYPE
COL5A1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
COL3A1
EHLERS-DANLOS SYNDROME, TYPE VI; EDS6
PLOD1
EHLERS-DANLOS SYNDROMETYPE VII, AUTOSOMAL RECESSIVEEHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
ADAMTS2
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
EMD
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
LMNA
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3
RANBP2
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB
COL7A1
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA
PLEC1
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM
KRT5
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM
KRT14
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
LAMA3
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
LAMB3
EPIDERMOLYTIC HYPERKERATOSIS; EHK
KRT10
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2
NPRL2
EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
ALDH7A1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2
CDKL5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23
DOCK7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3
SLC25A22
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4
STXBP1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5
SPTAN1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9;
PCDH19
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
COMP
EXOSTOSES, MULTIPLE, TYPE I
EXT1
EXOSTOSES, MULTIPLE, TYPE II
EXT2
FABRY dISEASE
GLA
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
FRG1
FACTOR V DEFICIENCY
F5
FACTOR VII DEFICIENCY
F7
FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
APC
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1
NLRP3
FAMILIAL MEDITERRANEAN FEVER; FMF
MEFV
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
FANCA
FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
FANCB
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
FANCC
FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2
FANCD2
FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE
FANCE
FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF
FANCF
FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG
FANCG
FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
FANCI
FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ
BRIP1
FETAL AKINESIA DEFORMATION SEQUENCE; FADS
RAPSN
FETAL AKINESIA DEFORMATION SEQUENCE; FADS
NUP88
FETAL AKINESIA DEFORMATION SEQUENCE; FADS
MUSK
FOCAL DERMAL HYPOPLASIA; FDH
PORCN
FOVEAL HYPOPLASIA 2; FVH2
SLC38A8
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1
FRASER SYNDROME 1; FRASRS1
FRAS1
FRASER SYNDROME2
FREM2
FRIEDREICH ATAXIA 1; FRDA
FXN
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1
C9orf72
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
PGRN
FRUCTOSE INTOLERANCE, HEREDITARY
ALDOB
FUMARASE DEFICIENCY; FMRD
FH
GALACTOSEMIA
GALT
GALACTOSIALIDOSIS; GSL
CTSA
GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC
CDH1
GAUCHER dISEASE, TYPE I
GBA
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
ROBO3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9
STX1B
GERODERMA OSTEODYSPLASTICUM; GO
GORAB
GERSTMANN-STRAUSSLER dISEASE; GSD
PRNP
GITELMAN SYNDROME; GTLMNS
SLC12A3
GLANZMANN THROMBASTHENIA; GT
ITGA2B
GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
CYP1B1
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
SLC2A1
GLUTARIC ACIDEMIA I
GCDH
GLYCINE ENCEPHALOPATHY; GCE
GLDC
GLYCINE ENCEPHALOPATHY; GCE
AMT
GLYCOGEN BRANCHING ENZYME; GBE1
GBE1
GLYCOGEN STORAGE dISEASE Ia; GSD1A
G6PC
GLYCOGEN STORAGE dISEASE Ib; GSD1B
SLC37A4
GLYCOGEN STORAGE dISEASE II; GSD2
GAA
GLYCOGEN STORAGE dISEASE III; GSD3
AGL
GLYCOGEN STORAGE dISEASE IXa1; GSD9A1
PHKA2
GLYCOGEN STORAGE dISEASE VI; GSD6
PYGL
GLYCOGEN STORAGE dISEASE VII; GSD7
PFKM
GM1-GANGLIOSIDOSIS, TYPE I
GLB1
GRANULOMATOUS dISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I; CDG1
NCF1
GRANULOMATOUS dISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II; CDG2
NCF2
GRANULOMATOUS dISEASE, CHRONIC, X-LINKED; CDGX
CYBB
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
GLI3
GRISCELLI SYNDROME, TYPE 2; GS2
RAB27A
GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-14; GNA14
GNA14
HAREL-YOON SYNDROME; HAYOS
ATAD3A
HEMOCHROMATOSIS, TYPE 1; HFE1
HFE
HEMOGLOBIN H dISEASE; HBH
HBA2
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
HBA1
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
PRF1
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
UNC13D
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
STX11
HEMOPHILIA A; HEMA
F8
HEMOPHILIA B; HEMB
F9
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC
FH
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C
TRPV4
HERMANSKY-PUDLAK SYNDROME 1; HPS1
HPS1
HIRSCHSPRUNG dISEASE, SUSCEPTIBILITY TO, 1; HSCR1
RET
HLA MATCHING GENOTYPING
HOLOPROSENCEPHALY 2; HPE2
SIX3
HOLT-ORAM SYNDROME; HOS
TBX5
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CBS
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
MTHFR
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG
MTR
HUNTINGTON dISEASE; HD
HTT
HURLER SYNDROME
IDUA
HYALINE FIBROMATOSIS SYNDROME; HFS
ANTXR2
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
L1CAM
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2; HYC2
MPDZ
HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
HADHA
HYPEREKPLEXIA 4; HKPX4
ATAD1
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
STAT3
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
DOCK8
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
ABCC8
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
AHCY
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2
PIGO
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
PRX
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1
HPGD
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1
UMOD
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
ANOS1
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1
KAL1
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2
FGFR1
HYPOMAGNESEMIA 3, RENAL; HOMG3
CLDN16
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS
TBCE
HYPOPHOSPHATASIA, INFANTILE
ALPL
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
PHEX
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3
TBCK
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1
TGM1
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2
ALOX12B
ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
KRT1
ICHTHYOSIS, LAMELLAR, 2; LI2
ABCA12
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR
ELOVL4
ICHTHYOSIS, X-LINKED; XLI
STS
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
MBTPS2
IMMUNODEFICIENCY 25; IMD25
CD247
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
CD40LG
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8
LRBA
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX
FOXP3
INCONTINENTIA PIGMENTI; IP
IKBKG
INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD
ACO2
INFANTILE LIVER FAILURE SYNDROME 1; ILFS1
LARS
ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS
TBX4
ISOVALERIC ACIDEMIA; IVA
IVD
JOHANSON-BLIZZARD SYNDROME; JBS
UBR1
JOUBERT SYNDROME 1; JBTS1
INPP5E
JOUBERT SYNDROME 17; JBTS17
C5orf42
JOUBERT SYNDROME 17; JBTS17
CPLANE1
JOUBERT SYNDROME 18; JBTS18
TCTN3
JOUBERT SYNDROME 2; JBTS2
TMEM216
JOUBERT SYNDROME 21; JBTS21
CSPP1
JOUBERT SYNDROME 23; JBTS23
KIAA0586
JOUBERT SYNDROME 3; JBTS3
AHI1
JOUBERT SYNDROME 6; JBTS6
TMEM67
KNOBLOCH SYNDROME 1; KNO1
COL18A1
KRABBE dISEASE
GALC
LARSEN SYNDROME; LRS
FLNB
LEBER CONGENITAL AMAUROSIS 10; LCA10
CEP290
LEBER CONGENITAL AMAUROSIS 2; LCA2
RPE65
LEBER CONGENITAL AMAUROSIS 4; LCA4
AIPL1
LEBER CONGENITAL AMAUROSIS 5; LCA5LEBER CONGENITAL AMAUROSIS 5; LCA5
LCA5
LEBER CONGENITAL AMAUROSIS 6; LCA6
RPGRIP1
LEIGH SYNDROME; LS
NDUFS8
LEIGH SYNDROME; LS
NDUFS1
LEIGH SYNDROME; LS
SURF1
LESCH-NYHAN SYNDROME; LNS
HPRT1
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
ITGB2
LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3
FERMT3
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
EIF2B2
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
EIF2B4
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
EIF2B3
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
EIF2B5
LI-FRAUMENI SYNDROME 1; LFS1
TP53
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
LMNA
LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH
STAR
LISSENCEPHALY, X-LINKED, 2; LISX2LISSENCEPHALY, X-LINKED, 2; LISX2
ARX
LMNB1 RELATED DISORDER
LMNB1
LOEYS-DIETZ SYNDROME 1; LDS1
TGFBR2
LONG QT SYNDROME 1; LQT1
KCNQ1
LONG QT SYNDROME 2; LQT2
KCNH2
LONG QT SYNDROME 8; LQT8
CACNA1C
LYMPHATIC MALFORMATION 1; LMPHM1
FLT4
LYMPHEDEMA, HEREDITARY, III; LMPH3
PIEZO1
LYMPHEDEMA-DISTICHIASIS SYNDROME
FOXC2
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
SH2D1A
LYSOSOMAL ACID LIPASE DEFICIENCY LYSOSOMAL ACID LIPASE DEFICIENCY
LIPA
MACHADO-JOSEPH dISEASE; MJD
ATXN3
MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
BEST1
MAL DE MELEDA; MDM PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN
SLURP1
MAPLE SYRUP URINE dISEASE; MSUD
BCKDHB
MARFAN SYNDROME; MFS
FBN1
MARINESCO-SJOGREN SYNDROME; MSS
SIL1
MECKEL SYNDROME, TYPE 1; MKS1
MKS1
MECKEL SYNDROME, TYPE 11; MKS11
TMEM231
MECKEL SYNDROME, TYPE 6; MKS6
CC2D2A
MECKEL SYNDROME, TYPE 8; MKS8
TCTN2
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
MLC1
MELANOMA-PANCREATIC CANCER SYNDROME
CDKN2A
MENKES dISEASE
ATP7A
MENTAL RETARDATION
PPP1R3F
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35; MRD35
PPP2R5D
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
TRAPPC9
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38
HERC2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
NSUN2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
NSUN2
MENTAL RETARDATION, X-LINKED 102; MRX102
DDX3X
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE
AFF2
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC
CUL4B
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN
UBE2A
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
PSAP
METACHROMATIC LEUKODYSTROPHY; MLD
ARSA
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
COL10A1
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
MMACHC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; MAHCF
LMBRD1
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
MUT
METHYLMALONIC ACIDURIA, cblA TYPE
MMAA
METHYLMALONIC ACIDURIA, cblB TYPE
MMAB
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1
RNU4ATAC
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE; MCPH2
WDR62
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3
CDK5RAP2
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
ASPM
MICROCEPHALY 6, PRIMARY,MCPH6MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
CENPJ
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
PNKP
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
VSX2
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN
AMMECR1
MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
CACNA1A
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
RYR1
MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
ACAD9
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16
NDUFAF5
MITOCHONDRIAL DNA DEPLETION SYNDROME 13
FBXL4
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2
TK2
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A
POLG
MITOCHONDRIAL MUSCLE MYOPATHY
FDX2
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA
MOCS1
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
MOCS2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
BUB1B
MUCOLIPIDOSIS II ALPHA/BETA
GNPTAB
MUCOLIPIDOSIS IV; ML4
MCOLN1
MUCOPOLYSACCHARIDOSIS TYPE VI; MPS6
ARSB
MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME
IDS
MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
SGSH
MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
NAGLU
MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A
GALNS
MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA
CEP55
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
ETFA
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2
PIGA
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
MEN1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
CDKN1B
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
DMD
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMA2
MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC
CHKB
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DMD
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3
SGCA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
CAPN3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S
TRAPPC11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1
POMT1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
FKTN
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5
FKRP
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A
CHRNE
MYELODYSPLASTIC SYNDROME; MDS
GATA2
MYOCLONIC EPILEPSY OF LAFORA
NHLRC1
MYOCLONIC EPILEPSY OF LAFORA
EPM2A
MYOCLONIC-ATONIC EPILEPSY; MAE
SLC6A1
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
LPIN1
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET; EMARDD
MEGF10
MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX
MTM1
MYOPATHY, MYOFIBRILLAR, 1; MFM1
DES
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
CLCN1
MYOTONIC DYSTROPHY 1; DM1
DMPK
MYOTONIC DYSTROPHY 2; DM2
CNBP
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD
NAGS
NAIL-PATELLA SYNDROME; NPS
LMX1B
NEMALINE MYOPATHY 2; NEM2
NEB
NEMALINE MYOPATHY 8; NEM8
KLHL40
NEPHROTIC SYNDROME, TYPE 1; NPHS1
NPHS1
NEPHROTIC SYNDROME, TYPE 2; NPHS2
NPHS2
NEPHROTIC SYNDROME, TYPE 5
LAMB2
NEURAMINIDASE DEFICIENCY
NEU1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
PLA2G6
NEUROFIBROMATOSIS, TYPE I; NF1
NF1
NEUROFIBROMATOSIS, TYPE II; NF2
NF2
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A
SPTLC1
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
IKBKAP
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6
DST
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
ELANE
NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3
HAX1
NIEMANN-PICK dISEASE, TYPE A
SMPD1
NIEMANN-PICK dISEASE, TYPE C1; NPC1
NPC1
NIEMANN-PICK dISEASE, TYPE C2; NPC2
NPC2
NIJMEGEN BREAKAGE SYNDROME; NBS
NBN
NONAKA MYOPATHY; NM
GNE
NOONAN SYNDROME 1; NS1
PTPN11
NOONAN SYNDROME 3; NS3
KRAS
NOONAN SYNDROME 4; NS4
SOS1
NORRIE dISEASE; ND
NDP
OMENN SYNDROME
RAG1
OPTIC ATROPHY 1; OPA1
OPA1
ORNITHINE TRANSCARBAMYLASE DEFICIENCY
OTC
OSTEOGENESIS IMPERFECTA, TYPE I; OI1
COL1A1
OSTEOGENESIS IMPERFECTA, TYPE II; OI2
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE IX; OI9
PPIB
OSTEOGENESIS IMPERFECTA, TYPE V; OI5
IFITM5
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS
AMER1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
CLCN7
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
TCIRG1
PACHYONYCHIA CONGENITA 3; PC3
KRT6A
PANCREATITIS, HEREDITARY; PCTT
PRSS1
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
SDHB
PARAGANGLIOMAS 5; PGL5
SDHA
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
SCN4A
PELIZAEUS-MERZBACHER dISEASE; PMD
PLP1
PENDRED SYNDROME; PDS
SLC26A4
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
TNFRSF1A
PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1
FLNA
PERLMAN SYNDROME; PRLMNS
DIS3L2
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
ACOX1
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A
PEX3
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A
PEX13
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A
PEX1
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A
PEX5
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A
PEX12
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A
PEX6
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A
PEX2
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A
PEX10
PEUTZ-JEGHERS SYNDROME; PJS
STK11
PFEIFFER SYNDROME
FGFR1
PHENYLKETONURIA; PKU
PAH
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM
RUNX1
PLEUROPULMONARY BLASTOMA; PPB
DICER1
POLYCYSTIC KIDNEY dISEASE 1; PKD1
PKD1
POLYCYSTIC KIDNEY dISEASE 2; PKD2
PKD2
POLYCYSTIC KIDNEY dISEASE, AUTOSOMAL RECESSIVE; ARPKD
PKHD1
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
ADGRG1
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
GPR56
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
EXOSC3
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
TSEN54
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
SEPSECS
POPLITEAL PTERYGIUM SYNDROME; PPS
IRF6
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
UROS
PROLIDASE DEFICIENCY
PEPD
PROPIONIC ACIDEMIA
PCCB
PROPIONIC ACIDEMIA
PCCA
PROTHROMBIN DEFICIENCY, CONGENITAL
F2
PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A
GNAS
PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B
GNAS
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
SRD5A2
PSEUDOXANTHOMA ELASTICUM; PXE
ABCC6
PYCNODYSOSTOSIS
V
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD
PNPO
PYRUVATE KINASE DEFICIENCY OF RED CELLS
PKLR
RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6
RAPGEF6
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD
NRAS
RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
MET
RENAL CYSTS AND DIABETES SYNDROME; RCAD
HNF1B
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR
ATP6V0A4
RENAL TUBULAR DYSGENESIS; RTD
ACE
RENPENNING SYNDROME 1; RENS1
PQBP1
RESTRICTIVE DERMOPATHY, LETHAL
ZMPSTE24
RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, INCLUDED
OTX2
RETINITIS PIGMENTOSA 11; RP11
PRPF31
RETINITIS PIGMENTOSA 13; RP13
PRPF8
RETINITIS PIGMENTOSA 2; RP2
RP2
RETINITIS PIGMENTOSA 25; RP25
EYS
RETINITIS PIGMENTOSA 28; RP28
FAM161A
RETINITIS PIGMENTOSA 3; RP3
RPGR
RETINITIS PIGMENTOSA 4; RP4
RHO
RETINOBLASTOMA; RB1
RB1
RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
RS1
RETT SYNDROME, CONGENITAL VARIANT
FOXG1
RETT SYNDROME; RTT
MECP2
RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1
SMARCB1
RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE
RHCE
RHESUS BLOOD GROUP, D ANTIGEN; RHD
RHD
RIPPLING MUSCLE dISEASE 2; RMD2
CAV3
SAETHRE-CHOTZEN SYNDROME; SCS
TWIST1
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS
ST3GAL5
SANDHOFF dISEASE
HEXB
SCHINDLER dISEASE, TYPE I
NAGA
SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS
WNT10A
SECKEL SYNDROME 1; SCKL1
ATR
SENGERS SYNDROME
AGK
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE
RAG2
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE
IL7R
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
IL2RG
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD
TKT
SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
SHOX
SHORT-RIB THORACIC DYSPLASIA 10SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
IFT172
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
DYNC2H1
SHWACHMAN-DIAMOND SYNDROME; SDS
SBDS
SICKLE CELL ANEMIA
HBB
SMITH-LEMLI-OPITZ SYNDROME; SLOS
DHCR7
SONIC HEDGEHOG; SHH
SHH
SOTOS SYNDROME 1; SOTOS1
NSD1
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
ATL1
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
SPAST
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
TECPR2
SPHEROCYTOSIS, TYPE 1; SPH1
ANK1
SPHEROCYTOSIS, TYPE 2; SPH2
SPTB
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY
AR
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
IGHMBP2
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
SMN1
SPINOCEREBELLAR ATAXIA 1; SCA1
ATXN1
SPINOCEREBELLAR ATAXIA 13; SCA13
KCNC3
SPINOCEREBELLAR ATAXIA 2; SCA2
ATXN2
SPINOCEREBELLAR ATAXIA 6; SCA6
CACNA1A
SPINOCEREBELLAR ATAXIA 7; SCA7
ATXN7
SPINOCEREBELLAR ATAXIA 8; SCA8
ATXN8OS
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8
SYNE1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE
MMP13
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
TRAPPC2
STARGARDT dISEASE 1; STGD1
ABCA4
STICKLER SYNDROME, TYPE I; STL1
COL2A1
STICKLER SYNDROME, TYPE II; STL2
COL11A1
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD
ALDH5A1
SULFOCYSTEINURIA
SUOX
SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
MAPT
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
SFTPC
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3
ABCA3
SYMPHALANGISM, PROXIMAL; SYM1
NOG
TAY-SACHS dISEASE; TSD
HEXA
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
ENG
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
ACVRL1
TEMTAMY SYNDROME; TEMTYS TEMTAMY SYNDROME; TEMTYS TEMTAMY SYNDROME; TEMTYS
C12orf57
THROMBOCYTHEMIA 1; THCYT1 THROMBOCYTHEMIA 1; THCYT1
SH2B3
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
GATA1
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
RBM8A
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5
PROS1
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
ADAMTS13
TREACHER COLLINS SYNDROME 1; TCS1
TCOF1
TREACHER COLLINS SYNDROME 2; TCS2
POLR1D
TUBEROUS SCLEROSIS 1; TSC1
TSC1
TUBEROUS SCLEROSIS 2; TSC2
TSC2
TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1
TRAP1
TYROSINEMIA, TYPE I; TYRSN1
FAH
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
Col6A2
ULNAR-MAMMARY SYNDROME; UMS
TBX3
USHER SYNDROME, TYPE I; USH1
MYO7A
USHER SYNDROME, TYPE IF; USH1F
PCDH15
USHER SYNDROME, TYPE IIA; USH2A
USH2A
USHER SYNDROME, TYPE IIC; USH2C
GPR98
USHER SYNDROME, TYPE IIC; USH2C
ADGRV1
VAN DER WOUDE SYNDROME 1; VWS1
IRF6
VENTRICULOMEGALY WITH CYSTIC KIDNEY dISEASE; VMCKD
CRB2
VICI SYNDROME; VICIS
EPG5
VON HIPPEL-LINDAU SYNDROME; VHL
VHL
WAARDENBURG SYNDROME, TYPE 2A; WS2A
MITF
WARBURG MICRO SYNDROME 1; WARBM1
RAB3GAP1
WILSON dISEASE
ATP7B
WISKOTT-ALDRICH SYNDROME; WAS
WAS
WOLFRAM SYNDROME 1; WFS1
WFS1
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
ERCC5
YOU-HOOVER-FONG SYNDROME; YHFS
TELO2

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