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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal recessive 37, OMIM:615493