Genomics England
GMS Panels
Panels
Genes and Entities

ADK

adenosine kinase
OMIM: 102750
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia due to adenosine kinase deficiency 614300