Structural eye disease
Gene: ACTB
DB Riviere et al. 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4: 10 unrelated families with ACTB variants. Most variants reported are missense and some have been reported as gain-of-functionCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, 243310
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Riviere et al. 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4: 10 unrelated families with ACTB variants. Most variants reported are missense and some have been reported as gain-of-functionCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, 243310
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, 243310; Baraitser-Winter syndrome 1, 243310 to Baraitser-Winter syndrome 1, 243310
Source NHS GMS was added to ACTB. Mode of pathogenicity for gene ACTB was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 1, 243310 for gene: ACTB
gene: ACTB was added gene: ACTB was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 2505231 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310