Genomics England
GMS Panels
Panels
Genes and Entities

ADPRHL2

ADP-ribosylhydrolase like 2
OMIM: 610624
PanelMode of inheritanceDetails
1 panel
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095