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| Mendeliome v0.13390 | PIEZO2 | Zornitza Stark Marked gene: PIEZO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13390 | PIEZO2 | Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13390 | PIEZO2 | Zornitza Stark Phenotypes for gene: PIEZO2 were changed from to Marden-Walker syndrome (MIM#248700); Arthrogryposis, distal, type 3 (MIM#114300); Arthrogryposis, distal, type 5 (MIM#108145); Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13389 | PIEZO2 | Zornitza Stark Publications for gene: PIEZO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13388 | PIEZO2 | Zornitza Stark Mode of inheritance for gene: PIEZO2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13387 | PIEZO2 |
Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA5, more than 20 families reported. DA3, more than 10 families reported, R2686H is recurrent.; to: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA5, more than 20 families reported. DA3, more than 10 families reported, R2686H is recurrent. Marden-Walker: 2 families reported. |
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| Mendeliome v0.13387 | PIEZO2 | Zornitza Stark edited their review of gene: PIEZO2: Changed phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145), Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13387 | PIEZO2 |
Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA5, more than 20 families reported.; to: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA5, more than 20 families reported. DA3, more than 10 families reported, R2686H is recurrent. |
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| Mendeliome v0.13387 | PIEZO2 |
Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA3, more than 20 families reported.; to: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA5, more than 20 families reported. |
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| Mendeliome v0.13387 | PIEZO2 |
Zornitza Stark changed review comment from: Bi-allelic variants: more than 5 unrelated families reported.; to: Bi-allelic variants: more than 5 unrelated families reported. Mono-allelic variants: DA3, more than 20 families reported. |
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| Mendeliome v0.13387 | PIEZO2 | Zornitza Stark edited their review of gene: PIEZO2: Changed publications: 27653382, 27607563, 27843126, 27974811, 24726473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13387 | PIEZO2 | Zornitza Stark reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27607563, 27843126, 27974811; Phenotypes: Marden-Walker syndrome (MIM#248700), Arthrogryposis, distal, type 3 (MIM#114300), Arthrogryposis, distal, type 5 (MIM#108145); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIEZO2 was set to Unknown |
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