Familial cerebral small vessel disease


Green List (high evidence)

COLGALT1 (collagen beta(1-O)galactosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130309
EnsemblGeneIds (GRCh37): ENSG00000130309
OMIM: 617531, Gene2Phenotype
COLGALT1 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green as per my review.
Created: 10 Nov 2021, 2:52 p.m. | Last Modified: 10 Nov 2021, 2:52 p.m.
Panel Version: 1.13
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association.
Created: 10 Nov 2021, 2:50 p.m. | Last Modified: 10 Nov 2021, 2:51 p.m.
Panel Version: 1.12

Zornitza Stark (Australian Genomics)

Green List (high evidence)

3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos.
Sources: Literature
Created: 9 Sep 2021, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Brain small vessel disease 3 MIM#618360



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Literature
  • Brain small vessel disease 3, OMIM:618360
Clinvar variants
Variants in COLGALT1
Panels with this gene

History Filter Activity

10 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: colgalt1 has been classified as Green List (High Evidence).

10 Nov 2021, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: COLGALT1.

10 Nov 2021, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: COLGALT1 was added gene: COLGALT1 was added to Familial cerebral small vessel disease. Sources: Expert Review Amber,Literature Q4_21_rating tags were added to gene: COLGALT1. Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, OMIM:618360