Cholestasis

Gene: ADK

Amber List (moderate evidence)

ADK (adenosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000156110
EnsemblGeneIds (GRCh37): ENSG00000156110
OMIM: 102750, Gene2Phenotype
ADK is in 6 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.
Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676
Tags
for-review
OMIM
102750
Clinvar variants
Variants in ADK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: ADK.

18 Nov 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ADK was added gene: ADK was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21963049; 27500280; 26642971 Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676