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Primary lymphoedema v3.2 | PIEZO1 | Arina Puzriakova Tag Q4_21_MOI was removed from gene: PIEZO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v3.2 | PIEZO1 | Arina Puzriakova commented on gene: PIEZO1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.20 | PIEZO1 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Both mono- and biallelic' to 'Biallelic' only at the next GMS review. Monoallelic variants are associated with hereditary xerocytosis (MIM# 194380), a phenotype that is not relevant to this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.20 | PIEZO1 | Arina Puzriakova Mode of inheritance for gene: PIEZO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.19 | PIEZO1 | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: PIEZO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v2.19 | PIEZO1 | Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843 to Lymphatic malformation 6, OMIM:616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.88 | PIEZO1 | Sahar Mansour reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380, Lymphatic malformation 6 616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported; to: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in Lymphatic malformation 6 616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh Added comment: Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.84 | PIEZO1 | Sarah Leigh Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.83 | PIEZO1 | Sarah Leigh Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.42 | PIEZO1 | Sarah Leigh Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.35 | PIEZO1 | Ellen McDonagh reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema v1.34 | PIEZO1 |
Ellen McDonagh Source London South GLH was added to PIEZO1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Primary lymphoedema | PIEZO1 | Sarah Leigh marked PIEZO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary lymphoedema | PIEZO1 | Sarah Leigh commented on PIEZO1 |