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| Arthrogryposis v0.571 | TSEN54 | Zornitza Stark Marked gene: TSEN54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.571 | TSEN54 | Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.571 | TSEN54 | Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A, MIM# 277470; Pontocerebellar hypoplasia type 4, MIM# 225753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.570 | TSEN54 | Zornitza Stark Publications for gene: TSEN54 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.569 | TSEN54 | Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.568 | TSEN54 |
Zornitza Stark changed review comment from: Well established gene-disease association. Individuals homozygous for the common TSEN54 missense mutation A307S are reported to have a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation have a more severe phenotype consistent with PCH4.; to: Well established gene-disease association. Individuals homozygous for the common TSEN54 missense mutation A307S are reported to have a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation have a more severe phenotype consistent with PCH4. Multiple contractures are part of the phenotype. |
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| Arthrogryposis v0.568 | TSEN54 | Zornitza Stark edited their review of gene: TSEN54: Changed publications: 18711368, 20956791, 20952379, 20301773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.568 | Zornitza Stark Added reviews for gene TSEN54 from panel Cerebellar and Pontocerebellar Hypoplasia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.0 | TSEN54 |
Zornitza Stark gene: TSEN54 was added gene: TSEN54 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSEN54 was set to Unknown |
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