1. Genes and Genomic Entities
  2. ATXN7L3

ATXN7L3

ataxin 7 like 3
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ATXN7L3 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATXN7L3-related developmental delay, hypotonia and facial dysmorphism
    • Harel-Tora neurodevelopmental syndrome, OMIM:621377
    Tags
    • gene-checked
    Green ATXN7L3 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Harel-Tora neurodevelopmental syndrome, OMIM:621377
    Tags
    • gene-checked