1. Genes and Genomic Entities
  2. ADAT3

ADAT3

adenosine deaminase, tRNA specific 3
OMIM: 615302, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ADAT3 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0 (1 May 2024)

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 Amber
    • Literature
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286
    Green ADAT3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286
    Green ADAT3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 36, 615286