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Deafness_IsolatedAndComplex v1.1 | ACTB | Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome 1, MIM# 243310; Dystonia, juvenile-onset, MIM# 607371 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v1.0 | ACTB | Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310, Dystonia, juvenile-onset, MIM# 607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.16 | ACTB | Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.15 | ACTB | Zornitza Stark Marked gene: ACTB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.15 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.15 | ACTB | Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.14 | ACTB | Zornitza Stark Publications for gene: ACTB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.13 | ACTB | Zornitza Stark Mode of pathogenicity for gene: ACTB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.12 | ACTB | Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.11 | ACTB | Lilian Downie reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25052316, PMID: 29788902; Phenotypes: Baraitser-Winter syndrome, Deafness-dystonia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.0 | ACTB |
Zornitza Stark gene: ACTB was added gene: ACTB was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: ACTB was set to Unknown |