Cholestasis
Gene: ADK

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional cases with neonatal cholestasis.
Created: 3 Dec 2021, 8:04 a.m. | Last Modified: 3 Dec 2021, 8:04 a.m.

Panel Version: 0.206

4 families reported, however detailed phenotypic data regarding liver abnormalities only provided for one: mildly abnormal LFTs consistent with a cholestatic picture. More characteristic features of the condition include global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine (AdoMet) and S-adenosylhomocysteine (AdoHcy).
Created: 8 Aug 2020, 5:28 a.m. | Last Modified: 8 Aug 2020, 5:28 a.m.

Panel Version: 0.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300

Publications

Created: 8 Aug 2020, 5:28 a.m.
Last Modified: 8 Aug 2020, 5:28 a.m.
Panel version: 0.206

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300

OMIM

102750

Clinvar variants

Variants in ADK

Penetrance

None

Publications

Panels with this gene