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  3. SH2D1A
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Gastrointestinal epithelial barrier disorders

Gene: SH2D1A

Green List (high evidence)
SH2D1A (SH2 domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 7 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: Expert review and previous curation indicate that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.
Created: 26 Jul 2018, 11:22 a.m.
Created: 26 Jul 2018, 11:22 a.m.

Panel version: 1.31

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least 14 variants reported.
Created: 5 Sep 2016, 9:02 a.m.
Created: 5 Sep 2016, 9:02 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.66

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Lymphoproliferative syndrome, X-linked, 1 308240
OMIM
300490
Clinvar variants
Variants in SH2D1A
Penetrance
None
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: sh2d1a has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

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

17 Apr 2018, Gel status: 2

Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene SH2D1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene SH2D1A were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Lymphoproliferative syndrome, X-linked, 1 308240

17 Apr 2018, Gel status: 2

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

UKGTN was added to SH2D1A. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene SH2D1A were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SH2D1A was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

SH2D1A was created by Olivia Niblock