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Intellectual disability

Gene: SHANK1

Red List (low evidence)

SHANK1 (SH3 and multiple ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000161681
EnsemblGeneIds (GRCh37): ENSG00000161681
OMIM: 604999, Gene2Phenotype
SHANK1 is in 4 panels

4 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

There is currently no evidence to suggest there is an association of this gene with intellectual disability. A number of papers with knockout mice implicate SHANK1 plays a role in learning and cognition but no evidence in humans.
Created: 5 Aug 2019, 10:14 a.m. | Last Modified: 5 Aug 2019, 10:14 a.m.
Panel Version: 2.993

Publications

Chris Buxton (North Bristol NHS Trust)

This gene has no OMIM disorder listed against it. There are 2 'Green' reviews listed against this gene for ID panel, but with no supporting evidence - what is the evidence for its inclusion as a Green gene?
Created: 23 Jul 2019, 12:53 p.m. | Last Modified: 23 Jul 2019, 12:53 p.m.
Panel Version: 2.967

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
AUTISM

Publications

  • 0

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • AUTISM
OMIM
604999
Clinvar variants
Variants in SHANK1
Penetrance
Complete
Publications
  • 0
Panels with this gene

History Filter Activity

5 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: shank1 has been classified as Red List (Low Evidence).

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

Added New Source

Ellen McDonagh (Genomics England Curator)

SHANK1 was added to Intellectual disabilitypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SHANK1 was created by ellenmcdonagh