| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.251 | BCAP31 | Zornitza Stark Marked gene: BCAP31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.251 | BCAP31 | Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.251 | BCAP31 | Zornitza Stark Phenotypes for gene: BCAP31 were changed from Deafness, dystonia and cerebellar hypomyelination, 300475 to Deafness, dystonia and cerebellar hypomyelination, MIM#300475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.250 | BCAP31 | Zornitza Stark Publications for gene: BCAP31 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.242 | BCAP31 | Sangavi Sivagnanasundram reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989, 28332767, 30713915, 31330203, 32652807; Phenotypes: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.0 | BCAP31 |
Bryony Thompson gene: BCAP31 was added gene: BCAP31 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475 |
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