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Gene: VPS11

Green List (high evidence)
VPS11 (VPS11, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000160695
EnsemblGeneIds (GRCh37): ENSG00000160695
OMIM: 608549, Gene2Phenotype
VPS11 is in 8 panels

3 reviews

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

Causes developmental delay and cognitive impairment, early onset. Additional features include truncal hypotonia, severe motor impairment, seizures and partial vision loss. Physiological features include brain white matter abnormalities, thin corpus callosum.
In Ashkenazi Jewish community, a Founder variant has been identified, VPS11:c.2536T-G transversion (c.2536T-G, NM_021729.5), resulting in a cys846-to-gly (C846G) substitution. This variant segregated with the phenotype in all families. Carrier frequency of this variant reported to range between 1 in 160 to 1 in 250 (see Edvardson et al. 2015 PMID:26307567 and Zhang et al. 2016 PMID:26307567).
Created: 3 Feb 2025, 3:01 a.m. | Last Modified: 3 Feb 2025, 3:01 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 12, MIM# 616683

Publications

Created: 3 Feb 2025, 3:01 a.m.
Last Modified: 3 Feb 2025, 3:01 a.m.
Panel version: 1.1397

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Severe neurodevelopmental disorder, congenital onset.
Created: 25 Jul 2024, 1:10 a.m. | Last Modified: 25 Jul 2024, 1:10 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 12 (MIM#616683)

Created: 25 Jul 2024, 1:10 a.m.
Last Modified: 25 Jul 2024, 1:10 a.m.
Panel version: 1.9

Crystle Lee (Victorian Clinical Genetics Services)

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: 14 Jul 2022, 5:11 a.m. | Last Modified: 14 Jul 2022, 5:11 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 12 (MIM#616683)

Publications

Created: 14 Jul 2022, 5:11 a.m.
Last Modified: 14 Jul 2022, 5:11 a.m.
Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Tags
founder
OMIM
608549
Clinvar variants
Variants in VPS11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: VPS11 were set to 27120463; 26307567; 27473128

6 Feb 2025, Gel status: 3

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag founder tag was added to gene: VPS11.

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive for gene: VPS11

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps11 has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS11 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS11 was added gene: VPS11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive