| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.74 | HSPA9 | Louise Daugherty Mode of inheritance for gene: HSPA9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | HSPA9 | Louise Daugherty commented on gene: HSPA9: 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: HSPA9; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | HSPA9 | Steve Keeney reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sideroblastic anaemia type 4, 182170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | HSPA9 | Louise Daugherty Added phenotypes Sideroblastic anaemia type 4, 182170 for gene: HSPA9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | HSPA9 | Louise Daugherty Source North West GLH was added to HSPA9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | HSPA9 | Louise Daugherty commented on gene: HSPA9: 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: HSPA9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 182170 sideroblastic anaemia type 4; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | HSPA9 | Mandy nesbitt reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 182170 sideroblastic anaemia type 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | HSPA9 | Louise Daugherty Added phenotypes 182170 sideroblastic anaemia type 4 for gene: HSPA9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | HSPA9 | Louise Daugherty Source Yorkshire and North East GLH was added to HSPA9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | HSPA9 | Louise Daugherty commented on gene: HSPA9: 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: HSPA9; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 182170 Sideroblastic anaemia 4; PMID(s): 26491070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | HSPA9 | Frances Smith reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26491070; Phenotypes: 182170 Sideroblastic anaemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | HSPA9 |
Louise Daugherty Added phenotypes 182170 Sideroblastic anaemia 4 for gene: HSPA9 Publications for gene HSPA9 were changed from to 26491070 |
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| Rare anaemia v0.7 | HSPA9 | Louise Daugherty Source London South GLH was added to HSPA9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | HSPA9 | Louise Daugherty reviewed gene: HSPA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | HSPA9 | Carl Fratter reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | HSPA9 | Louise Daugherty Source NHS GMS was added to HSPA9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | HSPA9 |
Louise Daugherty Source Expert Review Green was added to HSPA9. Added phenotypes sideroblastic anaemia for gene: HSPA9 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | HSPA9 |
Louise Daugherty gene: HSPA9 was added gene: HSPA9 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HSPA9 was set to |
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