Activity
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9 actions
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| Cytopenia - NOT Fanconi anaemia v5.2 | TUBA4A | Achchuthan Shanmugasundram edited their review of gene: TUBA4A: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.2 | TUBA4A | Achchuthan Shanmugasundram Classified gene: TUBA4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.2 | TUBA4A | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Carl Fratter on Bleeding and platelet disorders panel (https://panelapp.genomicsengland.co.uk/panels/545/gene/TUBA4A/), there is only one published human case of macrothrombocytopenia and functional evidence from mouse model reported in association with variants in TUBA4A gene. This gene has been classified with 'Limited' rating by the Hemostasis Thrombosis expert panel in ClinGen. This gene can therefore be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v5.2 | TUBA4A | Achchuthan Shanmugasundram Gene: tuba4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.26 | TUBA4A | Achchuthan Shanmugasundram Phenotypes for gene: TUBA4A were changed from Thrombocytopenia to autosomal dominant macrothrombocytopenia, MONDO:0015372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.25 | TUBA4A | Achchuthan Shanmugasundram Classified gene: TUBA4A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.25 | TUBA4A | Achchuthan Shanmugasundram Gene: tuba4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.24 | TUBA4A | Achchuthan Shanmugasundram reviewed gene: TUBA4A: Rating: RED; Mode of pathogenicity: None; Publications: 30760556; Phenotypes: autosomal dominant macrothrombocytopenia, MONDO:0015372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.20 | TUBA4A |
Hannah Knight gene: TUBA4A was added gene: TUBA4A was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: TUBA4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA4A were set to 30760556 Phenotypes for gene: TUBA4A were set to Thrombocytopenia Review for gene: TUBA4A was set to RED Added comment: Linked to thrombocytopenia (PMID: 30760556, 2019) - only one patient reported Sources: Literature |
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