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Aminoacidopathy

Gene: ADK

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066

ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period.
Multiple reported in individuals with ADK deficiency.
LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity.
Sources: ClinGen
Created: 22 May 2024, 1:35 a.m. | Last Modified: 22 May 2024, 1:36 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
adenosine kinase deficiency MONDO:0100255

Publications

Created: 22 May 2024, 1:35 a.m.
Last Modified: 22 May 2024, 1:36 a.m.
Panel version: 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • adenosine kinase deficiency MONDO:0100255
OMIM
102750
Clinvar variants
Variants in ADK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adk has been classified as Green List (High Evidence).

24 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891

24 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adk has been classified as Green List (High Evidence).

22 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ADK was added gene: ADK was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891 Phenotypes for gene: ADK were set to adenosine kinase deficiency MONDO:0100255 Review for gene: ADK was set to GREEN