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  3. VPS33A
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Lysosomal storage disorder

Gene: VPS33A

Green List (high evidence)
VPS33A (VPS33A, CORVET/HOPS core subunit)
EnsemblGeneIds (GRCh38): ENSG00000139719
EnsemblGeneIds (GRCh37): ENSG00000139719
OMIM: 610034, Gene2Phenotype
VPS33A is in 6 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:23 a.m. | Last Modified: 1 Feb 2023, 11:23 a.m.
Panel Version: 2.3
Created: 1 Feb 2023, 11:23 a.m.
Last Modified: 1 Feb 2023, 11:23 a.m.
Panel version: 2.3

Eleanor Williams (Genomics England Curator)

Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)
Created: 5 Oct 2022, 11:29 p.m. | Last Modified: 5 Oct 2022, 11:29 p.m.
Panel Version: 1.78
Created: 5 Oct 2022, 11:29 p.m.
Last Modified: 5 Oct 2022, 11:29 p.m.
Panel version: 1.78

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts on this gene, which has a founder variant together with supportive functional studies.
Created: 24 Mar 2021, 3:12 p.m. | Last Modified: 24 Mar 2021, 3:12 p.m.
Panel Version: 1.70
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian population. Supportive functional studies were also presented (PMID 31070736).
Created: 17 Mar 2021, 11:02 a.m. | Last Modified: 8 Jan 2024, 3:24 p.m.
Panel Version: 3.3
Created: 17 Mar 2021, 11:02 a.m.
Last Modified: 8 Jan 2024, 3:24 p.m.
Panel version: 1.70

Zornitza Stark (Australian Genomics)

I don't know

Single variant (R498W) reported in the Turkish and Yakut population. Functional studies support association of this gene to lysosomal dysfunction.
Sources: Expert list
Created: 22 Jul 2020, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis-plus syndrome (MIM#617303)

Publications

Created: 22 Jul 2020, 10:33 a.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mucopolysaccharidosis-plus syndrome OMIM:617303
  • mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
OMIM
610034
Clinvar variants
Variants in VPS33A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: VPS33A. Tag Q3_22_expert_review was removed from gene: VPS33A.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to VPS33A. Source NHS GMS was added to VPS33A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Oct 2022, Gel status: 2

Removed Tag, Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: VPS33A. Tag Q3_22_rating tag was added to gene: VPS33A. Tag Q3_22_expert_review tag was added to gene: VPS33A.

24 Mar 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: VPS33A.

17 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: vps33a has been classified as Amber List (Moderate Evidence).

17 Mar 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VPS33A were set to 28013294; 27547915

17 Mar 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: VPS33A were changed from Mucopolysaccharidosis-plus syndrome (MIM#617303) to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012

22 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: VPS33A was added gene: VPS33A was added to Lysosomal storage disorder. Sources: Expert list Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33A were set to 28013294; 27547915 Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome (MIM#617303) Review for gene: VPS33A was set to AMBER