Malformations of cortical development
Gene: ACTG1
ACTG1 (actin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 9 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2P. Offered as diagnostic testCreated: 15 Dec 2016, 3:33 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser Winter Syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Baraitser Winter Syndrome
- OMIM
- 102560
- Clinvar variants
- Variants in ACTG1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 0
Upload gene information
Alice Gardham (Genomics England)ACTG1 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
8 Dec 2016, Gel status: 0
Created
Usha Kini (Oxford Centre for Genomic Medicine)ACTG1 was created by Ushak
8 Dec 2016, Gel status: 0
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)ACTG1 was added to Malformations of cortical developmentpanel. Sources: Expert Review