Cerebral Palsy
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels
1 review
Luisa Weiss (University of Adelaide)
Three independent cases in one cohort study.
Sources: LiteratureCreated: 16 May 2023, 5:09 a.m. | Last Modified: 16 May 2023, 5:13 a.m.
Panel Version: 1.36
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Baraitser-Winter syndrome 1 MIM#243310
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Baraitser-Winter syndrome 1 MIM#243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Clefting disorders
- Kabuki syndrome
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Craniosynostosis
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Phagocyte Defects
- Dystonia - complex
- Mosaic skin disorders
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actb has been classified as Green List (High Evidence).
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ACTB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ACTB was added gene: ACTB was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ACTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACTB were set to 33528536 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 MIM#243310 Review for gene: ACTB was set to GREEN