ADK

adenosine kinase
OMIM: 102750
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia due to adenosine kinase deficiency, OMIM:614300, MONDO:0013676
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia due to adenosine kinase deficiency 614300