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Fetal anomalies

Gene: SHANK2

Amber List (moderate evidence)

SHANK2 (SH3 and multiple ankyrin repeat domains 2)
EnsemblGeneIds (GRCh38): ENSG00000162105
EnsemblGeneIds (GRCh37): ENSG00000162105
OMIM: 603290, Gene2Phenotype
SHANK2 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for SUSCEPTIBILITY TO AUTISM TYPE 17
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • SUSCEPTIBILITY TO AUTISM TYPE 17
OMIM
603290
Clinvar variants
Variants in SHANK2
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SHANK2 was added gene: SHANK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17