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Early onset or syndromic epilepsy

Gene: COLGALT1

Amber List (moderate 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: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is not enough evidence to support a gene-disease association as only 2 of 3 cases had seizures.
Created: 10 Nov 2021, 2:50 p.m. | Last Modified: 10 Nov 2021, 2:53 p.m.
Panel Version: 2.463

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

Details

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

History Filter Activity

10 Nov 2021, Gel status: 2

Removed Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: COLGALT1. Tag watchlist tag was added to 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 Genetic epilepsy syndromes. 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