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Hearing loss

Gene: ACTB

Red List (low evidence)

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 18 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

History Filter Activity

24 Jun 2015, Gel status: 1

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

24 Jun 2015, Gel status: 1

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