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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