Cholestasis
Gene: ADK
Several cases with neonatal cholestasis - Ok to promote to greenCreated: 16 Nov 2021, 1:48 p.m. | Last Modified: 16 Nov 2021, 1:48 p.m.
Panel Version: 1.93
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
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
Tag for-review was removed from gene: ADK. Tag Q4_21_NHS_review was removed from gene: ADK.
Source Expert Review Green was added to ADK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_NHS_review tag was added to gene: ADK.
Publications for gene: ADK were set to 21963049; 27500280; 26642971
Tag for-review tag was added to gene: ADK.
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