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Skeletal dysplasia

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

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 11:31 p.m. | Last Modified: 11 Mar 2026, 11:31 p.m.
Panel Version: 8.37
Created: 11 Mar 2026, 11:31 p.m.
Last Modified: 11 Mar 2026, 11:31 p.m.
Panel version: 8.37

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39273517 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 11:17 a.m. | Last Modified: 25 Mar 2025, 11:17 a.m.
Panel Version: 7.36
There are numerous reports of the homozygous VPS33A variant: NM 022916.5: c.1492C > T, p.Arg498Trp in cases of Mucopolysaccharidosis-plus syndrome (OMIM:617303)(PMID: 27547915;28013294;31070736;39273517). Common features of this syndrome include: hepatomegaly, splenomegaly, respiratory difficulties, developmental delay including limited cognitive abilities and various skeletal issues (PMID: 27547915;28013294;31070736;39273517).
Sources: Literature
Created: 25 Mar 2025, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis-plus syndrome, OMIM:617303; mucopolysaccharidosis-plus syndrome, MONDO:0015012

Publications

Created: 25 Mar 2025, 11:11 a.m.

Panel version: 7.34

Details

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

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: VPS33A.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

25 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VPS33A were set to 27547915; 28013294; 31070736; 39273517

25 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

25 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: VPS33A was added gene: VPS33A was added to Skeletal dysplasia. Sources: Literature Q1_25_ promote_green tags were added to gene: VPS33A. Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33A were set to 27547915; 28013294; 31070736; 39273517 Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome, OMIM:617303; mucopolysaccharidosis-plus syndrome, MONDO:0015012 Review for gene: VPS33A was set to GREEN