This Panel is marked as Retired
SCID
Gene: AK2
AK2 (adenylate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000004455
EnsemblGeneIds (GRCh37): ENSG00000004455
OMIM: 103020, Gene2Phenotype
AK2 is in 7 panels
4 reviews
Christopher Duncan (Newcastle University)
Kimberly Gilmour (Great Ormond Street Hopsital)
Sophie Hambleton (Newcastle University)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Was added by one reviewer, and rated green by an additional two reviewers, therefore added as a green gene to the panel. It is a confirmed DD gene for reticular dysgenesis.Created: 20 May 2016, 2:25 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- reticular dysgenesis with sensorineural deafness
- OMIM
- 103020
- Clinvar variants
- Variants in AK2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
20 May 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).
20 May 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).
19 Oct 2015, Gel status: 0
Added New Source
Sophie Hambleton (Newcastle University)AK2 was added to SCIDpanel. Sources: Literature,Expert list,Expert Review