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| Cytopenia - NOT Fanconi anaemia v0.136 | GP1BA |
Louise Daugherty Source Expert Review Amber was added to GP1BA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.135 | GP1BA | Louise Daugherty commented on gene: GP1BA: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Mild macrothrombocytopenia; North West GLH: Platelet type VWD, mild thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | GP1BA | Louise Daugherty Source Expert review Amber was added to GP1BA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | GP1BA |
Louise Daugherty Source Wessex and West Midlands GLH was added to GP1BA. Source Yorkshire and North East GLH was added to GP1BA. Source North West GLH was added to GP1BA. |
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| Cytopenia - NOT Fanconi anaemia v0.123 | GP1BA | Louise Daugherty Phenotypes for gene: GP1BA were changed from 231200 Bernard-Soulier syndrome, type A1 to Bernard-Soulier syndrome, type A1, 231200; Mild macrothrombocytopenia; Platelet type VWD, mild thrombocytopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.109 | GP1BA | Louise Daugherty Classified gene: GP1BA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.109 | GP1BA | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be red for R91 Cytopenia - NOT Fanconi anaemia panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.109 | GP1BA | Louise Daugherty Gene: gp1ba has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | GP1BA |
Louise Daugherty Source Expert Review Green was added to GP1BA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | GP1BA |
Louise Daugherty Mode of inheritance for gene GP1BA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA |
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| Cytopenia - NOT Fanconi anaemia v0.11 | GP1BA | Louise Daugherty reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | GP1BA | Frances Smith reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 231200 Bernard-Soulier syndrome, type A1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | GP1BA |
Louise Daugherty Added phenotypes 231200 Bernard-Soulier syndrome, type A1 for gene: GP1BA Publications for gene GP1BA were changed from to 2308962 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | GP1BA | Louise Daugherty Source NHS GMS was added to GP1BA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | GP1BA |
Louise Daugherty gene: GP1BA was added gene: GP1BA was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: GP1BA was set to |
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