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Mendeliome

Gene: SHANK2

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: 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.
Created: 13 Apr 2020, 11:47 a.m. | Last Modified: 13 Apr 2020, 11:47 a.m.
Panel Version: 0.2225

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Reduced penetrance: Some reports (OMIM), but as this gene caused ASD it may go undiagnosed or with a wide spectrum of severity – ie. Inconclusive.

LOF proven functionally in transfected iPSCs and knockout mice

Large dels encompassing part of all of the gene are commonly reported (OMIM)
Created: 20 Mar 2020, 6:31 a.m. | Last Modified: 20 Mar 2020, 6:31 a.m.
Panel Version: 0.1795

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism susceptibility 17}
  • Autism spectrum disorder with or without intellectual disability
OMIM
603290
Clinvar variants
Variants in SHANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shank2 has been classified as Green List (High Evidence).

13 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}; Autism spectrum disorder with or without intellectual disability

13 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHANK2 were set to

13 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHANK2 was added gene: SHANK2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SHANK2 was set to Unknown