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| Cytopenia - NOT Fanconi anaemia v0.136 | TUBB1 |
Louise Daugherty Source Expert Review Amber was added to TUBB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.135 | TUBB1 | Louise Daugherty commented on gene: TUBB1: 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: Macrothrombocytopenia, beta-tubulin 1 related; North West GLH: Not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted;London South GLH: no comment submitted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | TUBB1 | Louise Daugherty Source Expert review Amber was added to TUBB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | TUBB1 |
Louise Daugherty Source Wessex and West Midlands GLH was added to TUBB1. Source Yorkshire and North East GLH was added to TUBB1. Source North West GLH was added to TUBB1. |
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| Cytopenia - NOT Fanconi anaemia v0.131 | TUBB1 | Louise Daugherty Phenotypes for gene: TUBB1 were changed from 613112 Macrothrombocytopenia to Macrothrombocytopenia, 613112 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.56 | TUBB1 | Louise Daugherty Classified gene: TUBB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.56 | TUBB1 | Louise Daugherty Gene: tubb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.55 | TUBB1 | Louise Daugherty Classified gene: TUBB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.55 | TUBB1 | Louise Daugherty Gene: tubb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | TUBB1 | Louise Daugherty Source Expert Review Red was added to TUBB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.12 | TUBB1 |
Louise Daugherty Mode of inheritance for gene TUBB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | TUBB1 | Louise Daugherty reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | TUBB1 | Frances Smith reviewed gene: TUBB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 613112 Macrothrombocytopenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | TUBB1 |
Louise Daugherty Added phenotypes 613112 Macrothrombocytopenia for gene: TUBB1 Publications for gene TUBB1 were changed from to 18849486 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | TUBB1 | Louise Daugherty Source NHS GMS was added to TUBB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | TUBB1 |
Louise Daugherty gene: TUBB1 was added gene: TUBB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: TUBB1 was set to |
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