White matter disorders and cerebral calcification - narrow panel
Gene: VPS11
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
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.Created: 6 May 2021, 3:39 p.m. | Last Modified: 6 May 2021, 3:39 p.m.
Panel Version: 1.69
Recurrent homozygous variant, p.Cys846Gly identified in more than 10 families of Ashkenazi Jewish descent. One other variant reported in another family in PMID 27473128. Functional data.Created: 16 Sep 2020, 7:09 a.m. | Last Modified: 16 Sep 2020, 7:09 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 12, MIM# 616683
Publications
Tag Q2_21_rating was removed from gene: VPS11.
Source NHS GMS was added to VPS11. Source Expert Review Green was added to VPS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: VPS11.
Gene: vps11 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: VPS11 were changed from Leukodystrophy, hypomyelinating, 12, MIM#616683 to Leukodystrophy, hypomyelinating, 12, OMIM:616683
Publications for gene: VPS11 were set to 26307567, 27120463
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: VPS11 was added gene: VPS11 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to 26307567, 27120463 Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683