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


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

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 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • 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