Deafness_Isolated
Gene: ACTG1EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Definitive gene-disease association, over 24 affected families reported, >100 individuals. Phenotype does not overlap with the other disease entity associated with ACTG1 (Baraitser-Winter syndrome). It has been suggested that haploinsufficiency is not a mechanism of either ADNSHL or BWS and both disorders may be due to gain-of-function through two distinct effects. A homozygous ACTG1-null mouse model demonstrates progressive hearing loss which supports a role of the ACTG1 gene in hearing (Belyantseva et al. 2009, PMID: 19497859), but note mechanism is LOF vs the GOF proposed for the human disorder.Created: 24 Sep 2020, 11:40 a.m. | Last Modified: 24 Sep 2020, 11:40 a.m.
Panel Version: 0.392
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 20/26, MIM# 604717
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal dominant 20/26, MIM# 604717
- OMIM
- 102560
- Clinvar variants
- Variants in ACTG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Craniosynostosis
- Deafness_Isolated
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actg1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ACTG1 were changed from DFNA20 - isolated to Deafness, autosomal dominant 20/26, MIM# 604717
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ACTG1 were set to 29620237
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACTG1 was added gene: ACTG1 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG1 were set to 29620237 Phenotypes for gene: ACTG1 were set to DFNA20 - isolated