ALKBH8

alkB homolog 8, tRNA methyltransferase
OMIM: 613306, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ALKBH8 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
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 71, OMIM:618504

Amber ALKBH8 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
    • Expert Review
    • Expert Review
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 71, OMIM:618504
    Tags
    • Q3_22_rating

    Green ALKBH8 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 71, 618504