The Molecular Genetic Diagnosis Center (Children’s Hospital of Fudan University), MGDC-CHFU

General information

The Molecular Genetic Diagnosis Center, MGDC-CHFU
Children’s Hospital of Fudan University
399 Wanyuan Road, Minhang District
Shanghai
Shanghai
China - 200032
http://ch.shmu.edu.cn/
Organization ID: 506025

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 114

Gene

GeneSubmissionsLast Updated
ALPL2Jul 9, 2020
AMT1Jul 9, 2020
BCL11B2Jul 22, 2021
CCDC391Jul 9, 2020
CD40LG1Mar 4, 2020
CHD71Mar 4, 2020
COG62Mar 4, 2020
CPT22Mar 4, 2020
CREBBP7Dec 11, 2018
CYBB1Mar 4, 2020
DNAH111Jul 9, 2020
DNAH51Jul 9, 2020
DUSP291Mar 4, 2020
EARS21Mar 4, 2020
EPS82Aug 18, 2021
ERBB31Jul 9, 2020
FOXC21Mar 4, 2020
FOXC2-AS11Mar 4, 2020
GAA1Mar 4, 2020
GALC3Mar 4, 2020
GATA31Oct 23, 2019
IFNGR12Mar 4, 2020
IL10RA3Mar 22, 2021
IL7R1Mar 4, 2020
IVD1Jul 9, 2020
KAT6B1Mar 4, 2020
KCNQ23Jul 9, 2020
LIAS2Jul 9, 2020
LIG41Jul 9, 2020
LOC1002895801Jul 9, 2020
LOC1019297101Jan 25, 2021
LOXHD16Oct 9, 2020
LZTR11Jul 9, 2020
MAGEL28May 20, 2021
MAGT14Aug 31, 2021
NIPBL1Mar 4, 2020
NTRK11Jul 9, 2020
PACS21Jul 9, 2020
PAH8Mar 27, 2019
PAK31Aug 29, 2019
PCCA2Mar 4, 2020
PCCB1Jul 9, 2020
PCSK11Jan 25, 2021
PEX12Mar 4, 2020
PIEZO12Jul 9, 2020
PPP3CA1Mar 16, 2018
PREPL1Sep 23, 2019
RAF11Jul 9, 2020
RPGRIP1L2Jul 30, 2021
RRM2B2Mar 4, 2020
RYR11Jul 9, 2020
SCN2A3Jul 9, 2020
SCN5A1Jul 9, 2020
SERAC11Mar 4, 2020
SFTPB1Jul 9, 2020
SLC25A202Mar 4, 2020
SLC27A41Jul 9, 2020
SLC34A31Oct 23, 2019
SMARCA46Feb 25, 2020
STXBP11Mar 4, 2020
TBX21Jul 9, 2020
TCIRG12Mar 4, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Mar 4, 2020
Atrial septal defect1Feb 25, 2020
Autistic behavior1Feb 25, 2020
Autosomal recessive osteopetrosis 12Mar 4, 2020
Benign familial neonatal seizures 12Jul 9, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type1Mar 4, 2020
CHARGE association1Mar 4, 2020
Carnitine acylcarnitine translocase deficiency2Mar 4, 2020
Carnitine palmitoyltransferase II deficiency, lethal neonatal2Mar 4, 2020
Central core myopathy1Jul 9, 2020
Cerebral palsy1Feb 25, 2020
Chronic granulomatous disease, X-linked1Mar 4, 2020
Ciliary dyskinesia, primary, 141Jul 9, 2020
Ciliary dyskinesia, primary, 31Jul 9, 2020
Ciliary dyskinesia, primary, 71Jul 9, 2020
Combined oxidative phosphorylation deficiency 121Mar 4, 2020
Congenital disorder of glycosylation type 2L2Mar 4, 2020
Cornelia de Lange syndrome 11Mar 4, 2020
Deafness, autosomal recessive 1022Aug 18, 2021
Deafness, autosomal recessive 776Oct 9, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2Jul 9, 2020
Delayed speech and language development1Feb 25, 2020
Developmental and epileptic encephalopathy 911Mar 16, 2018
Developmental and epileptic encephalopathy, 661Jul 9, 2020
Disseminated atypical mycobacterial infection2Mar 4, 2020
Distichiasis-lymphedema syndrome1Mar 4, 2020
Early infantile epileptic encephalopathy 113Jul 9, 2020
Early infantile epileptic encephalopathy 41Mar 4, 2020
Early infantile epileptic encephalopathy 73Jul 9, 2020
Familial medullary thyroid carcinoma1Jul 9, 2020
Galactosylceramide beta-galactosidase deficiency3Mar 4, 2020
Global developmental delay2Feb 25, 2020
Glycogen storage disease, type II1Mar 4, 2020
Hereditary insensitivity to pain with anhidrosis1Jul 9, 2020
Hyper-IgM syndrome type 11Mar 4, 2020
Hypercalciuria1Oct 23, 2019
Hypoparathyroidism, deafness, renal disease syndrome1Oct 23, 2019
Ichthyosis prematurity syndrome1Jul 9, 2020
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia4Aug 31, 2021
Infantile hypophosphatasia2Jul 9, 2020
Inflammatory bowel disease 28, autosomal recessive4Mar 22, 2021
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities2Jul 22, 2021
Intellectual disability2Feb 25, 2020
Isovaleryl-CoA dehydrogenase deficiency1Jul 9, 2020
LEOPARD syndrome 21Jul 9, 2020
Lethal congenital contracture syndrome 21Jul 9, 2020
Lig4 syndrome1Jul 9, 2020
Long QT syndrome 31Jul 9, 2020
Lymphedema, hereditary, III2Jul 9, 2020
Meckel syndrome, type 52Jul 30, 2021
Mental retardation 30, X-linked1Aug 29, 2019
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2Mar 4, 2020
Myasthenic syndrome, congenital, 221Sep 23, 2019
Non-ketotic hyperglycinemia1Jul 9, 2020
Noonan syndrome 101Jul 9, 2020
Noonan syndrome 21Jul 9, 2020
Noonan syndrome 51Jul 9, 2020
Peroxisome biogenesis disorder 1A (Zellweger)2Mar 4, 2020
Phenylketonuria8Mar 27, 2019
Propionic acidemia3Jul 9, 2020
Proprotein convertase 1/3 deficiency1Jan 25, 2021
Pyruvate dehydrogenase lipoic acid synthetase deficiency2Jul 9, 2020
Rubinstein-Taybi syndrome 17Dec 11, 2018
Schaaf-Yang syndrome8May 20, 2021
Seizures1Feb 25, 2020
Seizures, benign familial infantile, 32Jul 9, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1Mar 4, 2020
Surfactant metabolism dysfunction, pulmonary, 11Jul 9, 2020
Ventricular septal defect1Feb 25, 2020
Vertebral anomalies and variable endocrine and T-cell dysfunction1Jul 9, 2020
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