1. Genes and Genomic Entities
  2. ANK3

ANK3

ankyrin 3
OMIM: 600465, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ANK3 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

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
    Green ANK3 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 37, OMIM:615493