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Gastrointestinal epithelial barrier disorders

Gene: SHANK3

Red List (low evidence)
SHANK3 (SH3 and multiple ankyrin repeat domains 3)
EnsemblGeneIds (GRCh38): ENSG00000251322
EnsemblGeneIds (GRCh37): ENSG00000251322
OMIM: 606230, Gene2Phenotype
SHANK3 is in 5 panels

1 review

Olivia Niblock (Genomics England Curator)

Comment on list classification: Syndromic presentation but gastrointestinal features in this spectrum are not clearly reported - internal clinical team review. Therefore, have classed this gene as low evidence
Created: 25 Jul 2018, 4:18 p.m.
Created: 25 Jul 2018, 4:18 p.m.

Panel version: 0.34

History Filter Activity

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: shank3 has been classified as Red List (Low Evidence).

17 Apr 2018, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

SHANK3 was added to Gastrointestinal epithelial barrier disorders panel. Sources:

17 Apr 2018, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

SHANK3 was created by Olivia Niblock