Bone Marrow Failure
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels
2 reviews
Santosh Varughese (University of Melbourne)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia-Deafness Syndrome 1; Baraitser-Winter Syndrome 1; Becker Nevus Syndrome and Becker Nevi; Congenital Smooth Muscle Hamartoma with or without Hemihypertrophy; Thrombocytopenia 8 with Dysmorphic Features and Developmental Delay
Publications
Variants in this GENE are reported as part of current diagnostic practice
Chirag Patel (Genetic Health Queensland)
Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert listCreated: 12 Dec 2023, 10:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Publications
- PMID: 30315159
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
-
- PMID: 30315159
- 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).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: actb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: ACTB was added gene: ACTB was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to PMID: 30315159 Phenotypes for gene: ACTB were set to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Review for gene: ACTB was set to GREEN gene: ACTB was marked as current diagnostic