Cytopenia - NOT Fanconi anaemia
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
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Baraitser-Winter syndrome 1 with macrothrombocytopenia; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Baraitser-Winter syndrome 1 with macrothrombocytopenia
- Baraitser-Winter syndrome 1, 243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- DDG2P
- COVID-19 research
- Clefting
- Ocular coloboma
- Structural eye disease
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Inherited bleeding disorders
- Fetal anomalies
History Filter Activity
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to ACTB.
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to ACTB.
4 Nov 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Baraitser-Winter syndrome 1 with macrothrombocytopenia; Baraitser-Winter syndrome 1, 243310 for gene: ACTB
4 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ACTB was added gene: ACTB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: ACTB was set to