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Center for Molecular Medicine (Children’s Hospital of Fudan University), CMM-CHFU

General information

Center for Molecular Medicine, CMM-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: 222

Gene

GeneSubmissionsLast Updated
ABAT1Feb 8, 2022
ALPL2Jul 9, 2020
AMPD22Feb 8, 2022
AMT1Jul 9, 2020
BCL11B2May 15, 2022
BCOR1Oct 12, 2021
BICRA5Apr 19, 2023
BRAF1Feb 8, 2022
BTD1Mar 8, 2022
CAST1Jan 25, 2021
CBS2Jun 6, 2023
CCDC391Jul 9, 2020
CD40LG1Mar 4, 2020
CHD72Oct 12, 2021
COG62Mar 4, 2020
COL4A11Feb 8, 2022
CPT22Mar 4, 2020
CREBBP8Oct 12, 2021
CYBB1Mar 4, 2020
DNAH111Jul 9, 2020
DNAH51Jul 9, 2020
DUSP292Feb 8, 2022
EARS21Mar 4, 2020
EBF34Aug 20, 2022
EHMT11Mar 8, 2022
EPS82Aug 18, 2021
ERBB31Jul 9, 2020
EVC1Oct 12, 2021
FBP18Sep 18, 2023
FIG42Oct 12, 2021
FOXC21Mar 4, 2020
FOXC2-AS11Mar 4, 2020
GAA1Mar 4, 2020
GALC3Mar 4, 2020
GATA31Oct 23, 2019
GJB22Mar 8, 2022
GLDC1Feb 8, 2022
HSALR12Oct 12, 2021
IFNGR12Mar 4, 2020
IL10RA3Mar 22, 2021
IL7R1Mar 4, 2020
IVD1Jul 9, 2020
KAT6B2Feb 8, 2022
KCNQ231Feb 8, 2022
KMT2D1Oct 12, 2021
L1CAM1Feb 8, 2022
LIAS2Jul 9, 2020
LIG41Jul 9, 2020
LOC1019297101Jan 25, 2021
LOC1125521751Feb 8, 2022
LOC1293906831Feb 8, 2022
LOC1300562171Mar 4, 2020
LOC1300684601Aug 31, 2021
LOXHD16Oct 9, 2020
LZTR11Jul 9, 2020
MAGEL28May 20, 2021
MAGT14Aug 31, 2021
MAP2K11Feb 8, 2022
MTOR2Feb 8, 2022
MUSK4Sep 25, 2022
NDUFA112Feb 8, 2022
NF11Feb 8, 2022
NIPBL1Mar 4, 2020
NKX2-51Oct 12, 2021
NTRK11Jul 9, 2020
OSGEP1May 14, 2022
PACS21Jul 9, 2020
PAH8Mar 27, 2019
PAK31Aug 29, 2019
PCCA2Mar 4, 2020
PCCB1Jul 9, 2020
PCSK11Jan 25, 2021
PDHA11Feb 8, 2022
PEX12Mar 4, 2020
PIEZO14Oct 12, 2021
PNPO1Feb 8, 2022
POGZ1Oct 12, 2021
PPP2R1A5Apr 19, 2023
PPP3CA1Mar 16, 2018
PREPL1Sep 23, 2019
PTEN1Feb 8, 2022
RAB11B1Feb 8, 2022
RAF11Jul 9, 2020
RECQL41Oct 12, 2021
RPGRIP1L2Jul 30, 2021
RRM2B2Mar 4, 2020
RYR11Jul 9, 2020
SCN2A3Jul 9, 2020
SCN5A1Jul 9, 2020
SERAC11Mar 4, 2020
SFTPB1Jul 9, 2020
SH2D1A1Mar 26, 2024
SLC12A62Feb 8, 2022
SLC25A202Mar 4, 2020
SLC27A41Jul 9, 2020
SLC34A31Oct 23, 2019
SMARCA410Aug 30, 2021
SOX51Dec 26, 2022
STXBP11Mar 4, 2020
TBC1D242Feb 8, 2022
TBX21Jul 9, 2020
TBX51Oct 12, 2021
TCIRG12Mar 4, 2020
TH2Feb 8, 2022
TSC23Feb 8, 2022
TUBA1A1Feb 8, 2022

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Mar 4, 2020
Agenesis of the corpus callosum with peripheral neuropathy2Feb 8, 2022
Atrial septal defect1Feb 25, 2020
Atrial septal defect 71Oct 12, 2021
Autistic behavior1Feb 25, 2020
Autosomal recessive DOPA responsive dystonia2Feb 8, 2022
Autosomal recessive nonsyndromic hearing loss 1022Aug 18, 2021
Autosomal recessive nonsyndromic hearing loss 1A2Mar 8, 2022
Autosomal recessive nonsyndromic hearing loss 776Oct 9, 2020
Autosomal recessive osteopetrosis 12Mar 4, 2020
Baller-Gerold syndrome1Oct 12, 2021
Biotinidase deficiency1Mar 8, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type1Mar 4, 2020
CHARGE association2Oct 12, 2021
COG6-ongenital disorder of glycosylation2Mar 4, 2020
Cardiofaciocutaneous syndrome 31Feb 8, 2022
Carnitine acylcarnitine translocase deficiency2Mar 4, 2020
Carnitine palmitoyl transferase II deficiency, neonatal form2Mar 4, 2020
Central core myopathy1Jul 9, 2020
Cerebral palsy1Feb 25, 2020
Charcot-Marie-Tooth disease type 4J2Oct 12, 2021
Classic homocystinuria2Jun 6, 2023
Coffin-Siris syndrome 125Apr 19, 2023
Congenital myasthenic syndrome 94Sep 25, 2022
Cornelia de Lange syndrome 11Mar 4, 2020
DNA ligase IV deficiency1Jul 9, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema4Oct 12, 2021
Delayed speech and language development1Feb 25, 2020
Developmental and epileptic encephalopathy, 113Jul 9, 2020
Developmental and epileptic encephalopathy, 162Feb 8, 2022
Developmental and epileptic encephalopathy, 41Mar 4, 2020
Developmental and epileptic encephalopathy, 661Jul 9, 2020
Developmental and epileptic encephalopathy, 731Feb 8, 2022
Distichiasis-lymphedema syndrome1Mar 4, 2020
Ellis-van Creveld syndrome1Oct 12, 2021
Epileptic encephalopathy, infantile or early childhood, 11Mar 16, 2018
Familial medullary thyroid carcinoma1Jul 9, 2020
Fructose-biphosphatase deficiency8Sep 18, 2023
Galactosylceramide beta-galactosidase deficiency3Mar 4, 2020
Galloway-Mowat syndrome 31May 14, 2022
Gamma-aminobutyric acid transaminase deficiency1Feb 8, 2022
Genitopatellar syndrome1Feb 8, 2022
Global developmental delay2Feb 25, 2020
Glycogen storage disease, type II1Mar 4, 2020
Granulomatous disease, chronic, X-linked1Mar 4, 2020
Hereditary insensitivity to pain with anhidrosis1Jul 9, 2020
Holt-Oram syndrome1Oct 12, 2021
Houge-Janssens syndrome 25Apr 19, 2023
Hyper-IgM syndrome type 11Mar 4, 2020
Hypercalciuria1Oct 23, 2019
Hypoparathyroidism, deafness, renal disease syndrome1Oct 23, 2019
Hypotonia, ataxia, and delayed development syndrome4Aug 20, 2022
Ichthyosis prematurity syndrome1Jul 9, 2020
Immunodeficiency 1041Mar 4, 2020
Immunodeficiency 27A2Mar 4, 2020
Infantile hypophosphatasia2Jul 9, 2020
Inflammatory bowel disease 284Mar 22, 2021
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities2May 15, 2022
Intellectual disability2Feb 25, 2020
Intellectual disability, X-linked 301Aug 29, 2019
Intellectual disability, autosomal dominant 164Aug 30, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Oct 12, 2021
Isovaleryl-CoA dehydrogenase deficiency1Jul 9, 2020
Kabuki syndrome 11Oct 12, 2021
Kleefstra syndrome 11Mar 8, 2022
LEOPARD syndrome 21Jul 9, 2020
Lamb-Shaffer syndrome1Dec 26, 2022
Lethal congenital contracture syndrome 21Jul 9, 2020
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1Mar 4, 2020
Lipoic acid synthetase deficiency2Jul 9, 2020
Lissencephaly due to TUBA1A mutation1Feb 8, 2022
Long QT syndrome 31Jul 9, 2020
Lymphatic malformation 62Jul 9, 2020
Macrocephaly-autism syndrome1Feb 8, 2022
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2Feb 8, 2022
Meckel syndrome, type 52Jul 30, 2021
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Feb 8, 2022
Mitochondrial DNA depletion syndrome 8a2Mar 4, 2020
Mitochondrial complex 1 deficiency, nuclear type 142Feb 8, 2022
Myasthenic syndrome, congenital, 221Sep 23, 2019
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1Feb 8, 2022
Neurofibromatosis-Noonan syndrome1Feb 8, 2022
Non-ketotic hyperglycinemia2Feb 8, 2022
Noonan syndrome 101Jul 9, 2020
Noonan syndrome 21Jul 9, 2020
Noonan syndrome 51Jul 9, 2020
Noonan syndrome 71Feb 8, 2022
Obesity due to prohormone convertase I deficiency1Jan 25, 2021
Oculofaciocardiodental syndrome1Oct 12, 2021
Peroxisome biogenesis disorder 1A (Zellweger)2Mar 4, 2020
Phenylketonuria8Mar 27, 2019
Pontocerebellar hypoplasia type 92Feb 8, 2022
Primary ciliary dyskinesia 141Jul 9, 2020
Primary ciliary dyskinesia 31Jul 9, 2020
Primary ciliary dyskinesia 71Jul 9, 2020
Propionic acidemia3Jul 9, 2020
Pyridoxal phosphate-responsive seizures1Feb 8, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Feb 8, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations8Oct 12, 2021
Schaaf-Yang syndrome8May 20, 2021
Seizure1Feb 25, 2020
Seizures, benign familial infantile, 32Jul 9, 2020
Seizures, benign familial neonatal, 127Nov 11, 2021
Surfactant metabolism dysfunction, pulmonary, 11Jul 9, 2020
Tuberous sclerosis 23Feb 8, 2022
Ventricular septal defect1Feb 25, 2020
Vertebral anomalies and variable endocrine and T-cell dysfunction1Jul 9, 2020
X-linked complicated corpus callosum dysgenesis1Feb 8, 2022
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia4Aug 31, 2021
X-linked lymphoproliferative disease due to SH2D1A deficiency1Mar 26, 2024