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  3. VPS11
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Leukodystrophy - paediatric

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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, 7:03 a.m. | Last Modified: 16 Sep 2020, 7:03 a.m.
Panel Version: 0.200

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 12, MIM# 616683

Publications

Created: 16 Sep 2020, 7:03 a.m.
Last Modified: 16 Sep 2020, 7:03 a.m.
Panel version: 0.200

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM#616683
Tags
founder
OMIM
608549
Clinvar variants
Variants in VPS11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, 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).

16 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: VPS11.

16 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VPS11 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS11 was added gene: VPS11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683