ANK3

ankyrin 3
OMIM: 600465, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ANK3 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • coloboma MONDO#0001476, ANK3-related

Green ANK3 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive, 37 615493
  • Intellectual disability, autosomal dominant
  • coloboma MONDO#0001476, ANK3-related

Green ANK3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive, 37 615493
  • Intellectual disability, autosomal dominant