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| Cytopenia - NOT Fanconi anaemia v2.3 | GP1BB | Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. GMS reviewers also note that mutations are associated with only platelet features not multi-lineage cytopenias. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v2.3 | GP1BB | Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: GP1BB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v2.3 | GP1BB | Achchuthan Shanmugasundram reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.69 | GP1BB | Arina Puzriakova Publications for gene: GP1BB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.68 | GP1BB | Arina Puzriakova Classified gene: GP1BB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.68 | GP1BB | Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS review. Variants are associated with Bernard-Soulier syndrome characterised by thrombocytopenia (within the scope of this panel), giant platelets and bleeding tendency. Sufficient cases for both inheritance patterns to rate as green with an AD/AR mode of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.68 | GP1BB | Arina Puzriakova Gene: gp1bb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.67 | GP1BB | Arina Puzriakova Tag Q2_22_rating tag was added to gene: GP1BB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.67 | GP1BB | Arina Puzriakova Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.66 | GP1BB | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' to align with the MOI set on other panels (Inherited bleeding disorders, Bleeding and platelet disorders). PMID:28064200 provides evidence for AD inheritance of macrothrombocytopenia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.66 | GP1BB | Arina Puzriakova Mode of inheritance for gene: GP1BB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.65 | GP1BB | Arina Puzriakova Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.136 | GP1BB |
Louise Daugherty Source Expert Review Amber was added to GP1BB. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.135 | GP1BB | Louise Daugherty reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | GP1BB | Louise Daugherty Source Expert review Amber was added to GP1BB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.133 | GP1BB |
Louise Daugherty Mode of inheritance for gene GP1BB was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bernard-Soulier syndrome, type B, 231200; Mild macrothrombocytopenia for gene: GP1BB |
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| Cytopenia - NOT Fanconi anaemia v0.132 | GP1BB |
Louise Daugherty gene: GP1BB was added gene: GP1BB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: GP1BB was set to |
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