Ocular coloboma
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
1 review
Alice Gardham (Genomics England)
Comment on list classification: On G2P and UKGTNCreated: 16 Nov 2016, 1:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 2, 614583
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Baraitser-Winter syndrome 2, 614583
- OMIM
- 102560
- Clinvar variants
- Variants in ACTG1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
6 Feb 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
16 Nov 2016, Gel status: 2
Added New Source
Alice Gardham (Genomics England)ACTG1 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Literature
16 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)ACTG1 was created by agardham