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 - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    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 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    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 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    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