Genomics England
GMS Panels
Panels
Genes and Entities
COLGALT1
collagen beta(1-O)galactosyltransferase 1
OMIM:
617531
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
- Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain small vessel disease 3, OMIM:618360