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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. |
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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) |
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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. |
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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 |