Genomics England
GMS Panels
Panels
Genes and Entities

COLGALT1

collagen beta(1-O)galactosyltransferase 1
OMIM: 617531
PanelMode of inheritanceDetails
1 panel
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
Brain small vessel disease 3, OMIM:618360