Structural eye disease
Gene: ACTG1
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: 7unrelated families with ACTG1 variants. All reported variants are missense and might not be loss-of-functionCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 2, 614583
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: 7unrelated families with ACTG1 variants. All reported variants are missense and might not be loss-of-functionCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 2, 614583
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: ACTG1 were changed from Baraitser-Winter syndrome 2, 614583; Baraitser-Winter syndrome 2, 614583 to Baraitser-Winter syndrome 2, 614583
Source NHS GMS was added to ACTG1. Mode of pathogenicity for gene ACTG1 was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 2, 614583 for gene: ACTG1
gene: ACTG1 was added gene: ACTG1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG1 were set to 22366783 Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, 614583