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  3. COLGALT1
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White matter disorders and cerebral calcification - narrow panel

Gene: COLGALT1

Green List (high evidence)
COLGALT1 (collagen beta(1-O)galactosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000130309
EnsemblGeneIds (GRCh37): ENSG00000130309
OMIM: 617531, Gene2Phenotype
COLGALT1 is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Ivone Leong (Genomics England Curator)

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. This gene should be rated Green at the next review.
Created: 10 Nov 2021, 2:50 p.m. | Last Modified: 10 Nov 2021, 2:50 p.m.
Panel Version: 1.215
Created: 10 Nov 2021, 2:50 p.m.
Last Modified: 10 Nov 2021, 2:50 p.m.
Panel version: 1.215

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

Phenotypes
Brain small vessel disease 3 MIM#618360

Publications

Created: 9 Sep 2021, 10:41 a.m.

Panel version: 1.198

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Brain small vessel disease 3, OMIM:618360
OMIM
617531
Clinvar variants
Variants in COLGALT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_rating was removed from gene: COLGALT1.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to COLGALT1. Source Expert Review Green was added to COLGALT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Nov 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3 MIM#618360 to Brain small vessel disease 3, OMIM:618360

10 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: colgalt1 has been classified as Amber List (Moderate Evidence).

10 Nov 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: COLGALT1.

9 Sep 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: COLGALT1 was added gene: COLGALT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature 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 MIM#618360 Review for gene: COLGALT1 was set to GREEN