1. Genes and Genomic Entities
  2. ACTL6A

ACTL6A

actin like 6A
OMIM: 604958, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ACTL6A 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • developmental delay
    • intellectual disability
    Tags
    • gene-checked
    Amber ACTL6A in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Autism spectrum disorders or developmental disorders