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  3. COLGALT1
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Stroke

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 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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: 11 Aug 2021, 7:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain small vessel disease 3 MIM#618360

Publications

Created: 11 Aug 2021, 7:39 a.m.

Panel version: 1.5

Details

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

History Filter Activity

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COLGALT1 was added gene: COLGALT1 was added to Stroke. 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