Genetics and Prenatal Diagnosis Center (The First Affiliated Hospital of Zhengzhou University)

General information

Genetics and Prenatal Diagnosis Center
The First Affiliated Hospital of Zhengzhou University
zhengzhou
China

Organization ID: 507584

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 78

Gene

GeneSubmissionsLast Updated
AMPD22May 13, 2021
ASXL31May 13, 2021
ATP2B31May 13, 2021
COG82May 13, 2021
CREBBP1May 13, 2021
DPM12May 13, 2021
FOXP21May 13, 2021
GAMT2May 13, 2021
GLRA11May 13, 2021
HNRNPH21May 13, 2021
HPS12Feb 5, 2021
HPS63Feb 5, 2021
KCNQ21May 13, 2021
KIF1A1May 13, 2021
LOC1027240581May 13, 2021
MCCC22May 13, 2021
MECP23May 13, 2021
MMACHC4May 13, 2021
MMUT16Aug 25, 2020
MPZL21May 13, 2021
MTHFR2May 13, 2021
NAPB1Sep 25, 2020
PANK22May 13, 2021
POMT12May 13, 2021
PRMT72May 13, 2021
RAI11May 13, 2021
RPL36A-HNRNPH21May 13, 2021
SCN1A1May 13, 2021
SCN2A1May 13, 2021
SLC16A21May 13, 2021
SMN12Jun 15, 2020
SOX51May 13, 2021
STXBP11May 13, 2021
TRIP121May 13, 2021

Condition

NameSubmissionsLast Updated
16p11.2 deletion syndrome2May 13, 2021
3-methylcrotonyl CoA carboxylase 2 deficiency2May 13, 2021
Allan-Herndon-Dudley syndrome1May 13, 2021
Anal atresia, hypospadias, and penoscrotal inversion1May 13, 2021
Bainbridge-Ropers syndrome1May 13, 2021
Chromosome 10q26 deletion syndrome1May 13, 2021
Chromosome 15q26-qter deletion syndrome1May 13, 2021
Clark-Baraitser syndrome1May 13, 2021
Cobalamin C disease4May 13, 2021
Congenital disorder of glycosylation type 1E2May 13, 2021
Congenital disorder of glycosylation type 2H2May 13, 2021
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12May 13, 2021
Deafness, autosomal recessive 1111May 13, 2021
Deficiency of guanidinoacetate methyltransferase2May 13, 2021
Deletion of short arm of chromosome 181May 13, 2021
Developmental delay with variable intellectual impairment and behavioral abnormalities1May 13, 2021
DiGeorge Syndrome2May 13, 2021
Early infantile epileptic encephalopathy 111May 13, 2021
Early infantile epileptic encephalopathy 41May 13, 2021
Early infantile epileptic encephalopathy 71May 13, 2021
Epileptic encephalopathy, early infantile, 11Sep 25, 2020
Hereditary spastic paraplegia 21May 13, 2021
Hermansky-Pudlak syndrome 12Feb 5, 2021
Hermansky-Pudlak syndrome 63Feb 5, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2May 13, 2021
Hyperekplexia 11May 13, 2021
Intellectual disability, autosomal dominant 91May 13, 2021
Lamb-shaffer syndrome1May 13, 2021
Mental retardation, X-linked, syndromic, Bain type1May 13, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency16Aug 25, 2020
Pelizaeus-Merzbacher disease1May 13, 2021
Pigmentary pallidal degeneration2May 13, 2021
Pontocerebellar hypoplasia, type 92May 13, 2021
Rett syndrome2May 13, 2021
Rubinstein-Taybi syndrome 11May 13, 2021
Severe myoclonic epilepsy in infancy1May 13, 2021
Severe neonatal-onset encephalopathy with microcephaly1May 13, 2021
Short stature, brachydactyly, intellectual developmental disability, and seizures2May 13, 2021
Smith-Magenis syndrome1May 13, 2021
Speech-language disorder 11May 13, 2021
Spinocerebellar ataxia, X-linked 11May 13, 2021
Syndromic X-linked intellectual disability Lubs type1May 13, 2021
Werdnig-Hoffmann disease2Jun 15, 2020
not provided2May 13, 2021
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