Autism
Gene: SHANK2

SHANK2 (SH3 and multiple ankyrin repeat domains 2)
EnsemblGeneIds (GRCh38): ENSG00000162105
EnsemblGeneIds (GRCh37): ENSG00000162105
OMIM: 603290, Gene2Phenotype
SHANK2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reports of CNVs, LoF variants, and missense variants in this gene, generally ascertained in autism cohorts. Some de novo and others inherited from parents with a range of neuropsychiatric phenotypes. Animal model data supports gene-disease association.
Created: 13 Apr 2020, 11:49 a.m. | Last Modified: 13 Apr 2020, 11:49 a.m.

Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Autism susceptibility 17}; Autism spectrum disorder with or without intellectual disability

Publications

Created: 13 Apr 2020, 11:49 a.m.
Last Modified: 13 Apr 2020, 11:49 a.m.
Panel version: 0.80

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

{Autism susceptibility 17}, MIM#613436
Autism spectrum disorder with or without intellectual disability

OMIM

603290

Clinvar variants

Variants in SHANK2

Penetrance

None

Publications

Panels with this gene