Fetal anomalies
Gene: COLGALT1

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

I don't know

Green on several panels and amber on epilepsy. ?only two families. White matter issues and porencephaly but ?onsent. Amber - not enough evidence of prenatal phenotype
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.

Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain small vessel disease 3, OMIM:618360

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Amber

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 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (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

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COLGALT1 was added gene: COLGALT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 31759980; 30412317; 33709034 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, MIM# 618360

Fetal anomalies Gene: COLGALT1

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.

Panel Version: 4.36