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White matter disorders and cerebral calcification - narrow panel

Gene: VPS11

Green List (high evidence)
VPS11 (VPS11, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000160695
EnsemblGeneIds (GRCh37): ENSG00000160695
OMIM: 608549, Gene2Phenotype
VPS11 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Ivone Leong (Genomics England Curator)

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
Created: 6 May 2021, 3:39 p.m.
Last Modified: 6 May 2021, 3:39 p.m.
Panel version: 1.69

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 16 Sep 2020, 7:09 a.m.
Last Modified: 16 Sep 2020, 7:09 a.m.
Panel version: 1.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, OMIM:616683
OMIM
608549
Clinvar variants
Variants in VPS11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: VPS11.

30 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

6 May 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: VPS11.

6 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: vps11 has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VPS11 were changed from Leukodystrophy, hypomyelinating, 12, MIM#616683 to Leukodystrophy, hypomyelinating, 12, OMIM:616683

6 May 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: VPS11 were set to 26307567, 27120463

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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