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
-
- Neurodegenerative disorders, adult onset
- Fetal anomalies
- Dystonia, chorea or related movement disorder, adult onset
- COVID-19 research
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Malformations of cortical development
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Ocular coloboma
- Mosaic skin disorders - Deep sequencing
- Intellectual disability
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Monogenic hearing loss
- Structural eye disease
- Inherited bleeding disorders
- Bleeding and platelet disorders
- Clefting
- Cytopenia - NOT Fanconi anaemia
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