1. Genes and Genomic Entities
  2. ANK3

ANK3

ankyrin 3
OMIM: 600465, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red ANK3 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green ANK3 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
    • intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210
    Amber ANK3 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 37, OMIM:615493
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review