Genetics Institute (Tel Aviv Sourasky Medical Center), GI

General information

Genetics Institute, GI
Tel Aviv Sourasky Medical Center
Wiezman 6
Tel Aviv
Israel - 6423906
https://www.tasmc.org.il/Internalmed/Genetics/Pages/Genetics.aspx
Organization ID: 507356

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 46

Gene

GeneSubmissionsLast Updated
ALX41May 12, 2021
ARID1B1May 12, 2021
ARX1May 12, 2021
ASXL21May 12, 2021
CACNA1I1May 12, 2021
CC2D2A2May 12, 2021
CENPJ1May 12, 2021
CEP85L1May 12, 2021
CILK12May 12, 2021
CLTC1May 12, 2021
CNOT11May 12, 2021
COL4A12May 12, 2021
COL4A21May 12, 2021
COL4A2-AS11May 12, 2021
DCC1May 12, 2021
ERCC21May 12, 2021
FLNA1May 12, 2021
FOXG11May 12, 2021
GFAP1May 12, 2021
GLI21May 12, 2021
HUWE11May 12, 2021
KANSL11May 12, 2021
KMT2E1May 12, 2021
L1CAM2May 12, 2021
MAP1B1May 12, 2021
NEPRO2May 12, 2021
OFD11May 12, 2021
OTUD51May 12, 2021
PAFAH1B11May 12, 2021
PEX21May 12, 2021
POMGNT21May 12, 2021
POMT12May 12, 2021
SCRIB1May 12, 2021
TAF11May 12, 2021
TCF121May 12, 2021
TSC21May 12, 2021
TUBA1A2May 12, 2021
TUBB1May 12, 2021
TUBB31May 12, 2021
VRK11May 12, 2021

Condition

NameSubmissionsLast Updated
Abnormal cortical gyration2May 12, 2021
Abnormality of brainstem morphology3May 12, 2021
Abnormality of the cerebellar vermis1May 12, 2021
Abnormality of the cerebellum1May 12, 2021
Abnormality of the cerebral cortex2May 12, 2021
Abnormality of the cerebral white matter2May 12, 2021
Abnormality of the corpus callosum3May 12, 2021
Anencephaly2May 12, 2021
Antenatal intracerebral hemorrhage1May 12, 2021
Arachnoid cyst1May 12, 2021
Cerebellar cyst1May 12, 2021
Cerebellar vermis hypoplasia1May 12, 2021
Colpocephaly1May 12, 2021
Congenital cerebellar hypoplasia1May 12, 2021
Congenital ocular coloboma2May 12, 2021
Corpus callosum, agenesis of4May 12, 2021
Cortical dysplasia, complex, with other brain malformations 11May 12, 2021
Cortical tubers1May 12, 2021
Craniosynostosis 31May 12, 2021
Dysplastic corpus callosum4May 12, 2021
Focal cortical dysplasia1May 12, 2021
Hypoplasia of the corpus callosum1May 12, 2021
Intraventricular hemorrhage2May 12, 2021
Lissencephaly3May 12, 2021
Lissencephaly 31May 12, 2021
Macrocephalus1May 12, 2021
Mental retardation, X-linked, syndromic 331May 12, 2021
Microcephaly3May 12, 2021
Microphthalmia2May 12, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81May 12, 2021
Neural tube defect1May 12, 2021
Optic nerve glioma1May 12, 2021
Partial agenesis of the corpus callosum1May 12, 2021
Periventricular cysts1May 12, 2021
Periventricular gray matter heterotopia1May 12, 2021
Periventricular nodular heterotopia1May 12, 2021
Polydactyly2May 12, 2021
Polymicrogyria1May 12, 2021
Pontocerebellar hypoplasia type 1A1May 12, 2021
Preterm intraventricular hemorrhage1May 12, 2021
Progressive ventriculomegaly1May 12, 2021
Renal cyst2May 12, 2021
Severe hydrocephalus1May 12, 2021
Thick corpus callosum1May 12, 2021
Ventriculomegaly5May 12, 2021
X-linked hydrocephalus syndrome2May 12, 2021
Zellweger syndrome1May 12, 2021
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