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Autism

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 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/SHANK2
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Amber
  • SFARI
OMIM
603290
Clinvar variants
Variants in SHANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SHANK2 were changed from to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932

29 Mar 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to SHANK2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SHANK2 was added gene: SHANK2 was added to Autism. Sources: SFARI Mode of inheritance for gene: SHANK2 was set to