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| Arthrogryposis v0.197 | TOR1A | Zornitza Stark Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.196 | TOR1A | Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.71 | TOR1A | Zornitza Stark Marked gene: TOR1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.71 | TOR1A | Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.71 | TOR1A | Zornitza Stark Classified gene: TOR1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.71 | TOR1A | Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.70 | TOR1A |
Michelle Torres changed review comment from: 5 patients reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM). Sources: Literature; to: 5 families reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM). Sources: Literature |
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| Arthrogryposis v0.70 | TOR1A |
Michelle Torres gene: TOR1A was added gene: TOR1A was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to PMID: 30244176 Phenotypes for gene: TOR1A were set to Arthrogryposis Review for gene: TOR1A was set to GREEN Added comment: 5 patients reported by multiple authors supporting that biallelic mutations (missense, inframe del and protein truncating) in TOR1A cause severe arthrogryposis. Other variable features are developmental delay, strabismus and tremor. Parents carriers do not have symptoms of autosomal dominant dystonia, also associate with this gene and known to have incomplete penetrance (OMIM). Sources: Literature |
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| Arthrogryposis v0.49 | TOR1AIP1 | Zornitza Stark Marked gene: TOR1AIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.49 | TOR1AIP1 | Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.49 | TOR1AIP1 | Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.49 | TOR1AIP1 | Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.48 | TOR1AIP1 |
Zornitza Stark gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937; 32055997 Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072; Progeroid appearance; Cataracts; Microcephaly; Deafness; Contractures Review for gene: TOR1AIP1 was set to GREEN Added comment: Multiple families reported but highly variable phenotype; joint contractures observed in multiple individuals. Sources: Literature |
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