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Genetic Epilepsy

Gene: ACTG1

Green List (high evidence)

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association

No genotype-phenotype correlation, as missense have been reported for both conditions with no clusters (OMIM; PMID: 29620237)

Only missense reported thus far for both conditions
Created: 22 Mar 2022, 1:53 a.m. | Last Modified: 22 Mar 2022, 1:53 a.m.
Panel Version: 0.11716

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 2MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. ID and seizures correlate with extent of brain anomalies.
Sources: Expert Review
Created: 25 Sep 2021, 2:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baraitser-Winter syndrome 2, MIM# 614583

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Baraitser-Winter syndrome 2, MIM# 614583
OMIM
102560
Clinvar variants
Variants in ACTG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2021, 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).

25 Sep 2021, 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).

25 Sep 2021, 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).

25 Sep 2021, 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).

25 Sep 2021, Gel status: 1

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 Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG1 were set to 22366783; 25052316 Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome 2, MIM# 614583 Review for gene: ACTG1 was set to GREEN