Genomics England
GMS Panels
Panels
Genes and Entities

ANK3

ankyrin 3
OMIM: 600465
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
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