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  3. SH2D1A
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Infantile enterocolitis & monogenic inflammatory bowel disease

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

2 reviews

Neil shah (GOSH)

Green List (high evidence)

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

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: 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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 1 308240
OMIM
300490
Clinvar variants
Variants in SH2D1A
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

SH2D1A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1 308240

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SH2D1A was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SH2D1A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list