Genomics England
GMS Panels
Panels
Genes and Entities

ADPRHL2

ADP-ribosylhydrolase like 2
OMIM: 610624
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 8.0
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
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
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
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 8.0
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
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 7.0
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