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Deafness_IsolatedAndComplex

Gene: ACTB

Green List (high evidence)

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 1, MIM# 243310; Dystonia, juvenile-onset, MIM# 607371

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

BWS - gain of function (missense mutations), deafness dystonia - described in 6 individual cases all with same mutation p.Arg183Trp
Created: 30 Dec 2019, 10:43 a.m. | Last Modified: 30 Dec 2019, 10:43 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome; Deafness-dystonia syndrome

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
  • Baraitser-Winter syndrome 1, MIM# 243310
  • Dystonia, juvenile-onset, MIM# 607371
OMIM
102630
Clinvar variants
Variants in ACTB
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

8 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACTB were set to

30 Dec 2019, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACTB 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: 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