Activity
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13 actions
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| Bleeding and platelet disorders v3.12 | BLOC1S5 |
Arina Puzriakova Tag Q4_23_promote_green was removed from gene: BLOC1S5. Tag Q4_23_NHS_review was removed from gene: BLOC1S5. |
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| Bleeding and platelet disorders v3.12 | BLOC1S5 | Arina Puzriakova edited their review of gene: BLOC1S5: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v3.11 | BLOC1S5 |
Arina Puzriakova Source Expert Review Green was added to BLOC1S5. Source NHS GMS was added to BLOC1S5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v3.7 | BLOC1S5 |
Ivone Leong Tag Q4_23_promote_green tag was added to gene: BLOC1S5. Tag Q4_23_NHS_review tag was added to gene: BLOC1S5. |
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| Bleeding and platelet disorders v3.7 | BLOC1S5 | Ivone Leong commented on gene: BLOC1S5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v3.7 | BLOC1S5 | Ivone Leong Phenotypes for gene: BLOC1S5 were changed from Hermansky–Pudlak syndrome to Hermansky–Pudlak syndrome 11, OMIM:619172; Hermansky-Pudlak syndrome 11, MONDO:0030903 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v3.6 | BLOC1S5 | Ivone Leong Publications for gene: BLOC1S5 were set to 32565547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v3.2 | BLOC1S5 | Hannah Knight reviewed gene: BLOC1S5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34685610, 34058075; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.12 | BLOC1S5 | Arina Puzriakova Classified gene: BLOC1S5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.12 | BLOC1S5 | Arina Puzriakova Added comment: Comment on list classification: Two unrelated patients with this mild form of HPS. Rating Amber awaiting further publications with additional cases or clinical evidence supporting this gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.12 | BLOC1S5 | Arina Puzriakova Gene: bloc1s5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.11 | BLOC1S5 | Arina Puzriakova reviewed gene: BLOC1S5: Rating: ; Mode of pathogenicity: None; Publications: 32565547; Phenotypes: Hermansky–Pudlak syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.9 | BLOC1S5 |
Zornitza Stark gene: BLOC1S5 was added gene: BLOC1S5 was added to Bleeding and platelet disorders. Sources: Literature Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S5 were set to 32565547 Phenotypes for gene: BLOC1S5 were set to Hermansky–Pudlak syndrome Review for gene: BLOC1S5 was set to GREEN gene: BLOC1S5 was marked as current diagnostic Added comment: 2 unrelated patients with mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Identified distinct homozygous variants in the BLOC1S5 gene (patient 1: deletion of exons 3 and 4, patient 2: 1-bp deletion in exon 4). Parental segregation confirmatory in patient 1, quantitative PCR analysis confirmatory in patient 2). Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele. Pathogenic variants in the genes encoding three other BLOC-1 subunits (DTNBP1, BLOC1S3, and BLOC1S6) underlie HPS types 7, 8, and 9 respectively. Sources: Literature |
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