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Rare anaemia v0.28 PIEZO1 Louise Daugherty commented on gene: PIEZO1: 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: PIEZO1; Suggested initial 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, imprinted status unknown; Phenotypes: Stomatocytosis;Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380;Hereditary xerocytosis; PMID(s): none submitted
Rare anaemia v0.27 PIEZO1 Steve Keeney reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380, Hereditary xerocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.26 PIEZO1 Louise Daugherty Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1
Rare anaemia v0.22 PIEZO1 Louise Daugherty Source North West GLH was added to PIEZO1.
Rare anaemia v0.17 PIEZO1 Louise Daugherty commented on gene: PIEZO1: 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: PIEZO1; 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, imprinted status unknown; Phenotypes: 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; PMID(s): none submitted
Rare anaemia v0.16 PIEZO1 Mandy nesbitt reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 194380 Stomatocytosis, Dehydrated hereditary stomatocytosis, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.15 PIEZO1 Louise Daugherty Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Dehydrated hereditary stomatocytosis for gene: PIEZO1
Rare anaemia v0.13 PIEZO1 Louise Daugherty Source Yorkshire and North East GLH was added to PIEZO1.
Rare anaemia v0.11 PIEZO1 Louise Daugherty commented on gene: PIEZO1: 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: PIEZO1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; 616843 Lymphatic malformation 6; PMID(s): 22529292; 23695678
Rare anaemia v0.10 PIEZO1 Frances Smith reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22529292, 23695678; Phenotypes: 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 616843 Lymphatic malformation 6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Rare anaemia v0.9 PIEZO1 Louise Daugherty Added phenotypes 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema for gene: PIEZO1
Publications for gene PIEZO1 were changed from 22529292; 23973043; 23695678; 23479567; 16898969; 23581886 to 23695678; 22529292
Rare anaemia v0.7 PIEZO1 Louise Daugherty Source London South GLH was added to PIEZO1.
Rare anaemia v0.6 PIEZO1 Louise Daugherty reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 PIEZO1 Carl Fratter reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.4 PIEZO1 Louise Daugherty Source NHS GMS was added to PIEZO1.
Rare anaemia v0.3 PIEZO1 Louise Daugherty Source Expert Review Green was added to PIEZO1.
Mode of inheritance for gene PIEZO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hereditary xerocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Stomatocytosis; Dehydrated hereditary stomatocytosis for gene: PIEZO1
Publications for gene PIEZO1 were changed from to 22529292; 23973043; 23695678; 23479567; 16898969; 23581886
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.2 PIEZO1 Louise Daugherty gene: PIEZO1 was added
gene: PIEZO1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PIEZO1 was set to