Mosaic skin disorders - deep sequencing
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
R147C, R147S. Mosaicism 2-15%Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Becker naevus
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ACTB; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Ocular coloboma
- Clefting
- COVID-19 research
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Early onset dystonia
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Inherited bleeding disorders
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene ACTB were changed from to 28347698
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ACTB.
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: ACTB was added gene: ACTB was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted