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Severe Paediatric Disorders v0.12 | PIEZO2 | Louise Daugherty reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PIEZO2 | Louise Daugherty Publications for gene PIEZO2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PIEZO2 | Louise Daugherty Mode of inheritance for gene PIEZO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PIEZO2 | Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PIEZO2 | Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PIEZO2 | Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PIEZO2 | Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, with impaired proprioception and touch, 617146; Arthrogryposis, distal, type 5, 108145 for gene: PIEZO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PIEZO2 | Louise Daugherty Source Next Generation Children Project was added to PIEZO2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PIEZO2 |
Louise Daugherty Source Expert Review Green was added to PIEZO2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PIEZO2 |
Louise Daugherty gene: PIEZO2 was added gene: PIEZO2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PIEZO2 was set to |