ATXN2L

ataxin 2 like
OMIM: 607931, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ATXN2L in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability
    • Macrocephaly
    Tags
    • watchlist