Genomics England
GMS Panels
Panels
Genes and Entities

ANK3

ankyrin 3
OMIM: 600465
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 37, OMIM:615493, intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210
Green
in Structural eye disease
R-numbers: R36
Signed-off version 5.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal recessive 37, OMIM:615493