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Lysosomal storage disorder v3.3 VPS33A Sarah Leigh changed review comment from: 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 poputation. Supportive functional studies were also presented (PMID 31070736). ; to: 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).
Lysosomal storage disorder v2.3 VPS33A Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: VPS33A.
Tag Q3_22_expert_review was removed from gene: VPS33A.
Lysosomal storage disorder v2.3 VPS33A Achchuthan Shanmugasundram reviewed gene: VPS33A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Lysosomal storage disorder v2.2 VPS33A Achchuthan Shanmugasundram 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)
Lysosomal storage disorder v1.78 VPS33A Eleanor Williams commented on gene: VPS33A
Lysosomal storage disorder v1.78 VPS33A Eleanor Williams 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.
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh edited their review of gene: VPS33A: Added comment: 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.; Changed rating: GREEN
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh changed review comment from: 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. Supportive functional studies were also presented (PMID 31070736).; to: 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 poputation. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh Tag Q2_21_expert_review tag was added to gene: VPS33A.
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Added comment: 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. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.66 VPS33A Sarah Leigh Publications for gene: VPS33A were set to 28013294; 27547915
Lysosomal storage disorder v1.65 VPS33A Sarah Leigh 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
Lysosomal storage disorder v1.3 VPS33A Zornitza Stark 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
Added comment: Single variant (R498W) reported in the Turkish and Yakut population. Functional studies support association of this gene to lysosomal dysfunction.
Sources: Expert list