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Intellectual disability

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 5 panels

2 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SUSCEPTIBILITY TO AUTISM TYPE 17 (AUTS17)

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • SUSCEPTIBILITY TO AUTISM TYPE 17 (AUTS17)
OMIM
603290
Clinvar variants
Variants in SHANK2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SHANK2.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SHANK2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SHANK2 was added to Intellectual disabilitypanel. Sources: Expert Review Green