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| DDG2P v3.12 | PIEZO2 | Achchuthan Shanmugasundram reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27974811, 27653382, 27912047, 24726473; Phenotypes: Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception, ARTHROGRYPOSIS, DISTAL, TYPE 3, OMIM:114300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIEZO2 | Achchuthan Shanmugasundram Publications for gene: PIEZO2 were updated from 27653382; 27974811; 27912047 to 27974811; 27653382; 27912047; 24726473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.52 | PIEZO2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.52 | PIEZO2 | Rebecca Foulger Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIEZO2 | Rebecca Foulger reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIEZO2 |
Rebecca Foulger Added phenotypes Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception for gene: PIEZO2 Publications for gene PIEZO2 were changed from 24726473 to 27653382; 27974811; 27912047 |
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| DDG2P v0.1 | PIEZO2 |
Rebecca Foulger gene: PIEZO2 was added gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO2 were set to 24726473 Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 |
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