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Deafness_IsolatedAndComplex

Gene: ACTG1

Green List (high evidence)

ACTG1 (actin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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
  • 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
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

24 Sep 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: ACTG1 was changed from to Other

24 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: actg1 has been classified as Green List (High Evidence).

24 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTG1 were changed from to Deafness, autosomal dominant 20/26, MIM# 604717

24 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACTG1 were set to

24 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTG1 was added gene: ACTG1 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: ACTG1 was set to Unknown