Monogenic hearing loss
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
1 review
Jun Shen (Harvard Medical School)
Syndromic. Hearing loss is not an invariable feature.Created: 19 Feb 2016, 6:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#243310:Baraitser-Winter syndrome 1[Short statureHeight in childhood <5th percentile; Weight in childhood <5th percentile; Postnatal growth retardation; Metopic ridgingTrigonocephalyMicrocephaly; Long philtrumProminent/full/wide cheeksPointed chinRetrognathia (in some patients); Low-set earsOverfolded helicesAbnormally shaped earsHearing loss, sensorineural (in some patients); PtosisHypertelorismProminent epicanthal foldsIris coloboma (in some patients)Chorioretinal colobomaMicrophthalmia (rare)Arched eyebrows (rare)Long palpebral fissures; Broad nasal bridgeShort noseUpturned noseLarge, squared nose tipProminent nasal root on profile; Thin upper lipLarge mouthThick/prominent/everted lower lipCleft lip/palate (in some patients); Short neck; Bicuspid aortic valveAortic stenosis; Patent ductus arteriosus; Small penis; Cryptorchidism; Kyphosis/scoliosis (in some patients)Pectus (in some patients); Limited extension of knees and elbows (in some patients); Duplicated hallux (rare); Low posterior hair line; Developmental delayIntellectual disabilityHypotoniaSeizuresAgenesis of corpus callosumFocal pachygyriaLissencephalyBand heterotopias (in some patients)Enlarged ventricles (in some patients)Spasticity of lower limbs (in some patients); Chromosome inversion - inv2(p12q14) in 2 patients; Caused by mutation in the beta actin gene (ACTB,)]; #607371:?Dystonia, juvenile-onset[Low birth weight; Small for age; High forehead; Sensorineural hearing loss; CataractsLimited vision; Cleft lipCleft palate; Hypoplastic scapulae; Achalasia; KyphoscoliosisAntecolis; Externally rotated hips; Developmental delay, mildDystonia, generalized, dopa-unresponsiveSubnormal cognitionActin depolymerizing factor/cofilin-immunoreactive eosinophilic rod-like cytoplasmic inclusions in neocortical and thalamic neuronsActin- and actin depolymerizing factor/cofilin-immunoreactive eosinophilic spherical structures in the striatum]
Publications
Details
- Sources
-
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- Dystonia, juvenile onset, 607371
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- Complete
- Panels with this gene
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- Cytopenia - NOT Fanconi anaemia
- Clefting
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- COVID-19 research
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Intellectual disability
- Malformations of cortical development
- Structural eye disease
- Fetal anomalies
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- DDG2P
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)ACTB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ACTB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert