ADPRHL2

ADP-ribosylhydrolase like 2
OMIM: 610624, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ADPRHL2 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    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
    Tags
    • new-gene-name
    Green ADPRHL2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    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
    Tags
    • new-gene-name
    Green ADPRHL2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.73
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    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
    Tags
    • new-gene-name
    Amber ADPRHL2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    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
    Tags
    • watchlist
    • new-gene-name
    Amber ADPRHL2 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    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
    Tags
    • new-gene-name
    Green ADPRHL2 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.30 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    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
    Tags
    • new-gene-name