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Division of Human Genetics (National Health Laboratory Service/University of the Witwatersrand), HumGenJHB

General information

Division of Human Genetics, HumGenJHB
National Health Laboratory Service/University of the Witwatersrand
De Korte Street
Johannesburg
Gauteng
South Africa - 2000
https://www.wits.ac.za/pathology/divisions/human-genetics/
Organization ID: 508172

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 172

Gene

GeneSubmissionsLast Updated
ABCD11Sep 12, 2023
APC1Sep 12, 2023
ARSB1Sep 12, 2023
ATRX1Nov 16, 2023
BBS101Nov 16, 2023
BRAF6Nov 16, 2023
BRCA11Sep 12, 2023
BRCA21Sep 12, 2023
CFTR3Sep 12, 2023
CHD76Nov 16, 2023
CHST61Nov 24, 2021
CLCN11Sep 12, 2023
COL1A11Sep 12, 2023
COL1A22Nov 16, 2023
COL2A13Nov 16, 2023
COL5A21Sep 12, 2023
COL7A12Nov 16, 2023
CPLANE11Nov 16, 2023
CTSK1Sep 12, 2023
DMD1Nov 16, 2023
EDA1Sep 12, 2023
F85Nov 16, 2023
F92Nov 16, 2023
FANCG2Nov 16, 2023
FBN19Nov 16, 2023
FGFR24Nov 16, 2023
FGFR34Nov 16, 2023
GPC31Nov 16, 2023
JAG11Sep 12, 2023
LDLR2Nov 16, 2023
LOC1116744721Sep 12, 2023
LOC1118119652Mar 10, 2023
LOC1268604031Jul 26, 2022
LZTR15Sep 12, 2023
MAP2K11Nov 16, 2023
MAP2K21Mar 10, 2023
MECP22Nov 16, 2023
MEF2C1Nov 16, 2023
MFN21Nov 16, 2023
MIR4733HG2Mar 10, 2023
MTM11Aug 14, 2023
MYH31Sep 12, 2023
NF122Nov 16, 2023
NIPBL9Nov 16, 2023
NPHS11Aug 14, 2023
NRAS1Mar 10, 2023
NSD12Nov 16, 2023
OCRL1Aug 14, 2023
PAX31Sep 12, 2023
PCNT1Nov 16, 2023
PKHD11Nov 16, 2023
POLR1D1Jul 26, 2022
POLR2F1Nov 16, 2023
PRSS11Nov 16, 2023
PTPN1115Nov 16, 2023
RAF12Mar 10, 2023
RET1Nov 16, 2023
RYR13Nov 16, 2023
SDHD1Nov 16, 2023
SHOC21Aug 14, 2023
SOS12Mar 10, 2023
SOX101Nov 16, 2023
STAC31Aug 14, 2023
STAG11Sep 7, 2023
STK111Nov 16, 2023
TCOF15Nov 16, 2023
TGM11Sep 12, 2023
TP531Sep 12, 2023
TP632Nov 16, 2023
TRB1Nov 16, 2023
TRPS11Sep 12, 2023
TRPV43Nov 16, 2023
TSC25Nov 16, 2023
WNT10A1Nov 16, 2023
XPA1Nov 16, 2023
XPC2Nov 16, 2023

Condition

NameSubmissionsLast Updated
Achondroplasia3Nov 16, 2023
Adrenoleukodystrophy1Sep 12, 2023
Alagille syndrome due to a JAG1 point mutation1Sep 12, 2023
Alpha thalassemia-X-linked intellectual disability syndrome1Nov 16, 2023
Autosomal recessive congenital ichthyosis 11Sep 12, 2023
Bailey-Bloch congenital myopathy1Aug 14, 2023
Bardet-Biedl syndrome1Nov 16, 2023
CHARGE syndrome6Nov 16, 2023
Cardiofaciocutaneous syndrome 12Mar 10, 2023
Cardiofaciocutaneous syndrome 41Mar 10, 2023
Charcot-Marie-Tooth disease type 21Nov 16, 2023
Collagen type 1 disorder1Nov 16, 2023
Congenital myotonia, autosomal recessive form1Sep 12, 2023
Cornelia de Lange syndrome 19Nov 16, 2023
Cystic fibrosis3Sep 12, 2023
Duchenne muscular dystrophy1Nov 16, 2023
Ectodermal dysplasia1Nov 16, 2023
Ehlers-Danlos syndrome1Sep 12, 2023
Epidermolysis bullosa2Nov 16, 2023
FGFR2-related craniosynostosis4Nov 16, 2023
Familial adenomatous polyposis 11Sep 12, 2023
Familial hypercholesterolemia2Nov 16, 2023
Fanconi anemia2Nov 16, 2023
Finnish congenital nephrotic syndrome1Aug 14, 2023
Freeman-Sheldon syndrome1Sep 12, 2023
Hereditary breast ovarian cancer syndrome1Sep 12, 2023
Hereditary cancer-predisposing syndrome2Nov 16, 2023
Hereditary factor IX deficiency disease2Nov 16, 2023
Hereditary factor VIII deficiency disease5Nov 16, 2023
Hereditary pancreatitis1Nov 16, 2023
Hypohidrotic X-linked ectodermal dysplasia1Sep 12, 2023
Intellectual disability, autosomal dominant 201Nov 16, 2023
Joubert syndrome 171Nov 16, 2023
LEOPARD syndrome 11Mar 10, 2023
Li-Fraumeni syndrome 11Sep 12, 2023
Lowe syndrome1Aug 14, 2023
Macular corneal dystrophy1Nov 24, 2021
Marfan syndrome9Nov 16, 2023
Metatropic dysplasia1Nov 16, 2023
Microcephalic osteodysplastic primordial dwarfism type II1Nov 16, 2023
Mucopolysaccharidosis type 61Sep 12, 2023
Neurofibromatosis, type 121Nov 16, 2023
Noonan syndrome 119Mar 10, 2023
Noonan syndrome-like disorder with loose anagen hair 11Aug 14, 2023
Osteogenesis imperfecta2Sep 12, 2023
Pheochromocytoma2Nov 16, 2023
Polycystic kidney disease 41Nov 16, 2023
Pyknodysostosis1Sep 12, 2023
RASopathy10Nov 16, 2023
RYR1-related disorder3Nov 16, 2023
Rett syndrome2Nov 16, 2023
STAG1-related disorder1Sep 7, 2023
Schwannomatosis 21Mar 10, 2023
Severe X-linked myotubular myopathy1Aug 14, 2023
Simpson-Golabi-Behmel syndrome type 11Nov 16, 2023
Skeletal dysplasia1Sep 12, 2023
Sotos syndrome2Nov 16, 2023
TP63-Related Spectrum Disorders2Nov 16, 2023
TRPV4-related bone disorder1Aug 14, 2023
Thanatophoric dysplasia type 11Nov 16, 2023
Treacher Collins syndrome 15Nov 16, 2023
Treacher Collins syndrome 21Jul 26, 2022
Trichorhinophalangeal syndrome1Sep 12, 2023
Tuberous sclerosis 25Nov 16, 2023
Type 2 collagenopathy1Aug 14, 2023
Type II Collagenopathies2Nov 16, 2023
Waardenburg syndrome1Nov 16, 2023
Waardenburg syndrome type 11Sep 12, 2023
Xeroderma pigmentosum3Nov 16, 2023