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| Cytopenia - NOT Fanconi anaemia v0.73 | SRP72 | Louise Daugherty Classified gene: SRP72 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.73 | SRP72 | Louise Daugherty Added comment: Comment on list classification: 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 v0.73 | SRP72 | Louise Daugherty Gene: srp72 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.72 | SRP72 | Louise Daugherty commented on gene: SRP72: Discrepant reviews for SRP72. To be discussed at July workshop to agree rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | SRP72 | Louise Daugherty commented on gene: SRP72: 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: SRP72; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial; PMID(s): 22541560; 29146883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | SRP72 | Steve Keeney reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Bone Marrow Failure, Familial, Bone marrow failure, familial, 614675, Familial Bone Marrow Failure, Familial MDS (Myelodysplastic syndromes), Bone Marrow Failure, Familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | SRP72 |
Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72 Publications for gene SRP72 were changed from 22541560 to 22541560; 29146883 |
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| Cytopenia - NOT Fanconi anaemia v0.27 | SRP72 | Louise Daugherty Source North West GLH was added to SRP72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | SRP72 | Louise Daugherty commented on gene: SRP72: 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: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614675 Bone marrow failure syndrome 1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | SRP72 | Mandy nesbitt reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | SRP72 | Louise Daugherty Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | SRP72 | Louise Daugherty Source Yorkshire and North East GLH was added to SRP72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | SRP72 | Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614675 Bone marrow failure syndrome 1; PMID(s): 22541560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | SRP72 | Frances Smith reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | SRP72 |
Louise Daugherty Added phenotypes 614675 Bone marrow failure syndrome 1 for gene: SRP72 Publications for gene SRP72 were changed from to 22541560 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | SRP72 | Louise Daugherty Source London South GLH was added to SRP72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | SRP72 | Louise Daugherty reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | SRP72 | Carl Fratter reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | SRP72 | Louise Daugherty Source NHS GMS was added to SRP72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | SRP72 |
Louise Daugherty Source Expert Review Amber was added to SRP72. Mode of inheritance for gene SRP72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Familial Bone Marrow Failure; Bone Marrow Failure, Familial; Bone marrow failure, familial, 614675; Familial MDS (Myelodysplastic syndromes) for gene: SRP72 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | SRP72 |
Louise Daugherty gene: SRP72 was added gene: SRP72 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SRP72 was set to |
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