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Rare anaemia v1.43 RHAG Arina Puzriakova Phenotypes for gene: RHAG were changed from Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; 268150 Anemia, hemolytic, Rh-null, regulator type; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; 185000 Overhydrated hereditary stomatocytosis; Stomatocytosis to Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR); Overhydrated hereditary stomatocytosis, OMIM:185000 (AD)
Rare anaemia v0.28 RHAG Louise Daugherty commented on gene: RHAG: 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: RHAG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: Stomatocytosis;Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000;Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; PMID(s): none submitted
Rare anaemia v0.27 RHAG Steve Keeney reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000, Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.26 RHAG Louise Daugherty Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG
Rare anaemia v0.22 RHAG Louise Daugherty Source North West GLH was added to RHAG.
Rare anaemia v0.17 RHAG Louise Daugherty commented on gene: RHAG: 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: RHAG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): none submitted
Rare anaemia v0.16 RHAG Mandy nesbitt reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare anaemia v0.15 RHAG Louise Daugherty Added phenotypes 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
Rare anaemia v0.13 RHAG Louise Daugherty Source Yorkshire and North East GLH was added to RHAG.
Rare anaemia v0.11 RHAG Louise Daugherty commented on gene: RHAG: 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: RHAG; 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: 185000 Overhydrated hereditary stomatocytosis;268150 Anemia, hemolytic, Rh-null, regulator type; PMID(s): 18931342
Rare anaemia v0.10 RHAG Frances Smith reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: 18931342; Phenotypes: 185000 Overhydrated hereditary stomatocytosis, 268150 Anemia, hemolytic, Rh-null, regulator type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rare anaemia v0.9 RHAG Louise Daugherty Added phenotypes 185000 Overhydrated hereditary stomatocytosis; 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG
Publications for gene RHAG were changed from 3920829; 21849667; 9716608; 9746795; 2917122; 8563755; 9454778 to 18931342
Rare anaemia v0.7 RHAG Louise Daugherty Source London South GLH was added to RHAG.
Rare anaemia v0.6 RHAG Louise Daugherty reviewed gene: RHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 RHAG Carl Fratter reviewed gene: RHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.4 RHAG Louise Daugherty Source NHS GMS was added to RHAG.
Rare anaemia v0.3 RHAG Louise Daugherty Source Expert Review Green was added to RHAG.
Mode of inheritance for gene RHAG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; Stomatocytosis for gene: RHAG
Publications for gene RHAG were changed from to 3920829; 21849667; 9716608; 9746795; 2917122; 8563755; 9454778
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.2 RHAG Louise Daugherty gene: RHAG was added
gene: RHAG was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RHAG was set to