Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: ADA

Green List (high evidence)

ADA (adenosine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels

3 reviews

Neil shah (GOSH)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 12 May 2018, 9:07 a.m.
Comment on list classification: Rated green by Neil Shah (GOSH), and green on Combined B and T cell defect Version 1.0 and SCID Version 1 gene panels.
Created: 10 Oct 2016, 1:09 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Numerous variants reported.
Created: 5 Sep 2016, 10:20 a.m.
Comment on phenotypes: Adenosine deaminase deficiency, partial 102700
Created: 5 Sep 2016, 10:06 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
Tags
gene-therapy-trial
OMIM
608958
Clinvar variants
Variants in ADA
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.

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ADA were set to Severe combined immunodeficiency due to ADA deficiency (SCID) 102700

5 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

ADA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: 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 ADA were set to Severe combined immunodeficiency due to ADA deficiency (SCID) 102700

20 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADA was created by ellenmcdonagh

20 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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