Ocular coloboma
Gene: ACTB
ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: On G2P and UKGTNCreated: 16 Nov 2016, 1:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, 243310
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 1, 243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Ocular coloboma
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Malformations of cortical development
- Intellectual disability
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Bleeding and platelet disorders
- Inherited bleeding disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
- Clefting
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: 0
Created
Alice Gardham (Genomics England)ACTB was created by agardham
16 Nov 2016, Gel status: 2
Added New Source
Alice Gardham (Genomics England)ACTB was added to Ocular colobomapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature