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Bleeding and platelet disorders v0.44 | SLC45A2 | Louise Daugherty Classified gene: SLC45A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.44 | SLC45A2 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber, so was downgraded from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.44 | SLC45A2 | Louise Daugherty Gene: slc45a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | SLC45A2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | SLC45A2 | Louise Daugherty commented on gene: SLC45A2: 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: SLC45A2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.27 | SLC45A2 | Steve Keeney reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.26 | SLC45A2 | Louise Daugherty Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.24 | SLC45A2 | Louise Daugherty Source North West GLH was added to SLC45A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.14 | SLC45A2 | Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.10 | SLC45A2 | Louise Daugherty commented on gene: SLC45A2: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SLC45A2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 606574 Albinism, oculocutaneous, type IV; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.9 | SLC45A2 | Michael Mitchell reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606574 Albinism, oculocutaneous, type IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.8 | SLC45A2 | Louise Daugherty Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.7 | SLC45A2 | Louise Daugherty Source London South GLH was added to SLC45A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.6 | SLC45A2 | Louise Daugherty reviewed gene: SLC45A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.5 | SLC45A2 | Carl Fratter reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.4 | SLC45A2 | Louise Daugherty Source NHS GMS was added to SLC45A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.3 | SLC45A2 |
Louise Daugherty Source Expert Review Green was added to SLC45A2. Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 606574 Albinism, oculocutaneous, type IV for gene: SLC45A2 Publications for gene SLC45A2 were changed from to none submitted Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Bleeding and platelet disorders v0.2 | SLC45A2 |
Louise Daugherty gene: SLC45A2 was added gene: SLC45A2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC45A2 was set to |