Genomics England
GMS Panels
Panels
Genes and Entities

KIAA1161

myogenesis regulating glycosidase (putative)
PanelMode of inheritanceDetails
3 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317