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| Hereditary Erythrocytosis v1.46 | PIEZO1 |
Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. GMS reviewers note that it is a very polymorphic gene that will impose a substantial analysis burden. Publication identifies 4 "possibly" causative mutations and stresses the importance of electrophysiological assessment of variants, which is not always easy to arrange. |
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| Hereditary Erythrocytosis v1.46 | PIEZO1 | Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: PIEZO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.46 | PIEZO1 | Achchuthan Shanmugasundram reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.44 | PIEZO1 | Arina Puzriakova Classified gene: PIEZO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.44 | PIEZO1 | Arina Puzriakova Added comment: Comment on list classification: New association with this phenotype identified by external reviewer, Dmitrijs Rots. Rating Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.44 | PIEZO1 | Arina Puzriakova Gene: piezo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.43 | PIEZO1 | Arina Puzriakova Tag Q1_22_rating tag was added to gene: PIEZO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.43 | PIEZO1 | Arina Puzriakova reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33181827, 31298594, 30655378; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.43 | PIEZO1 | Arina Puzriakova Publications for gene: PIEZO1 were set to PMID: 33181827 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.39 | PIEZO1 | Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from Erythrocytosis to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Erythrocytosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Erythrocytosis v1.35 | PIEZO1 |
Dmitrijs Rots gene: PIEZO1 was added gene: PIEZO1 was added to Hereditary Erythrocytosis. Sources: Literature Mode of inheritance for gene: PIEZO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIEZO1 were set to PMID: 33181827 Phenotypes for gene: PIEZO1 were set to Erythrocytosis Penetrance for gene: PIEZO1 were set to unknown Mode of pathogenicity for gene: PIEZO1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PIEZO1 was set to GREEN Added comment: Pathogenic variants (gain-of-function missense) in the PIEZO1 has been previously identified as a cause of hereditary xerocytosis. Recently, it has been Identified that similar (likely) pathogenic GoF missense variants likely causes erythrocytosis in 5 individuals. Functional analysis confirms pathogenicity of the variants. Patients also displayed features of hereditary xerocytosis. Sources: Literature |
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