| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.2392 | TOR1A | Zornitza Stark Marked gene: TOR1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2392 | TOR1A | Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2392 | TOR1A | Zornitza Stark Classified gene: TOR1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2392 | TOR1A | Zornitza Stark Gene: tor1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.667 | TOR1AIP1 | Zornitza Stark Marked gene: TOR1AIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.667 | TOR1AIP1 | Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.667 | TOR1AIP1 | Zornitza Stark Phenotypes for gene: TOR1AIP1 were changed from ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.666 | TOR1AIP1 | Zornitza Stark Classified gene: TOR1AIP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.666 | TOR1AIP1 | Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.665 | TOR1AIP1 | Zornitza Stark reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | TOR1AIP1 |
Krithika Murali gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 33215087; 32055997; 24856141; 31299614; 30723199; 27342937 Phenotypes for gene: TOR1AIP1 were set to ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome Review for gene: TOR1AIP1 was set to GREEN Added comment: Gene is associated with multiple muscle phenotypes. Phenotype highly variable. Single family myasthenic syndrome and supportive mouse model data. Sources: Expert list, Literature |
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| Fetal anomalies v0.0 | TOR1A |
Zornitza Stark gene: TOR1A was added gene: TOR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 28516161; 29053766 Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218 |
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