Genomics England
GMS Panels
Panels
Genes and Entities

MTCL1

microtubule crosslinking factor 1
OMIM: 615766
PanelMode of inheritanceDetails
1 panel
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
slowly progressive cerebellar ataxia, mild intellectual disability, seizures, episodic pain, spinocerebellar ataxia