ADPRHL2

ADP-ribosylhydrolase like 2
OMIM: 610624, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber ADPRHL2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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
    • Q2_21_rating

    Amber ADPRHL2 in DDG2P


    Version 2.78
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    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 1.127

    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