Familial cerebral small vessel disease
Gene: COLGALT1Comment 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
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: LiteratureCreated: 9 Sep 2021, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain small vessel disease 3 MIM#618360
Publications
Gene: colgalt1 has been classified as Green List (High Evidence).
Tag Q4_21_rating was removed from gene: COLGALT1.
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