Lysosomal storage disorder
Gene: VPS33A
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
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
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
Single variant (R498W) reported in the Turkish and Yakut population. Functional studies support association of this gene to lysosomal dysfunction.
Sources: Expert listCreated: 22 Jul 2020, 10:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome (MIM#617303)
Publications
Tag Q3_22_rating was removed from gene: VPS33A. Tag Q3_22_expert_review was removed from gene: VPS33A.
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)
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.
Tag Q2_21_expert_review tag was added to gene: VPS33A.
Gene: vps33a has been classified as Amber List (Moderate Evidence).
Publications for gene: VPS33A were set to 28013294; 27547915
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
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