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| Cytopenia - NOT Fanconi anaemia v0.136 | RBM8A |
Louise Daugherty Source Expert Review Red was added to RBM8A. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.135 | RBM8A | Louise Daugherty edited their review of gene: RBM8A: Added comment: 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 agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia-absent radius syndrome (TAR); Thrombocytopenia is variable but skeletal abnormalities are always present so I would class red; however already agreed as Amber in July Update October: RBM8A is green on R90 (bleeding & platelet disorders panel), so its covered. Considering this, Id favour Red on R91 for consistency with other syndromic thrombocytopenia associated genes that weve considered for this panel; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted ;London South GLH: no comment submitted.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | RBM8A | Louise Daugherty Source Expert review Red was added to RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | RBM8A | Louise Daugherty Source Wessex and West Midlands GLH was added to RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.68 | TERC | Louise Daugherty changed review comment from: RBM8A: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating; to: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.68 | TERC | Louise Daugherty commented on gene: TERC: RBM8A: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.67 | RBM8A | Louise Daugherty Classified gene: RBM8A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.67 | RBM8A | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.67 | RBM8A | Louise Daugherty Gene: rbm8a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.66 | RBM8A | Louise Daugherty commented on gene: RBM8A: Discrepant reviews for RBM8A. Rated as Green by LSGLH, YNEGLH - Amber rating by NWGLH, no review WWMGLH. To be discussed at July workshop to agree rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | RBM8A | Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5; PMID(s): 22366785; 28128450; 24220582; 17236129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | RBM8A | Steve Keeney reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 615190 DC type 4 and 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | RBM8A |
Louise Daugherty Added phenotypes 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; 615190 DC type 4 and 5 for gene: RBM8A Publications for gene RBM8A were changed from 22366785; 17236129 to 22366785; 24220582; 28128450; 17236129 |
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| Cytopenia - NOT Fanconi anaemia v0.27 | RBM8A | Louise Daugherty Source North West GLH was added to RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | RBM8A | Louise Daugherty commented on gene: RBM8A: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RBM8A; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | RBM8A | Mandy nesbitt reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | RBM8A | Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | RBM8A | Louise Daugherty Source Yorkshire and North East GLH was added to RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | RBM8A |
Louise Daugherty Source Expert Review Green was added to RBM8A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | RBM8A |
Louise Daugherty Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A |
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| Cytopenia - NOT Fanconi anaemia v0.11 | RBM8A | Louise Daugherty reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | RBM8A | Frances Smith reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274000 Thrombocytopenia-absent radius syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | RBM8A |
Louise Daugherty Added phenotypes 274000 Thrombocytopenia-absent radius syndrome for gene: RBM8A Publications for gene RBM8A were changed from to 22366785; 17236129 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | RBM8A | Louise Daugherty Source NHS GMS was added to RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | RBM8A |
Louise Daugherty gene: RBM8A was added gene: RBM8A was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: RBM8A was set to |
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