Monogenic hearing loss
Gene: ACTG1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#604717:Deafness, autosomal dominant 20/26[Hearing loss, sensorineural, bilateral, progressiveHearing loss begins with loss of high frequenciesAudiogram shows sloping configurationDeafness, profound, by 6th decade]; #614583:Baraitser-Winter syndrome 2[Trigonocephaly/metopic ridge; Prominent/full/wide cheeksPointed chinRetrognathia (in some patients); Abnormally shaped earsDeafness (in some patients); Microphthalmia (in some patients)Arched eyebrowsLong palpebral fissuresEye coloboma (in some patients)Hypertelorism/telecanthusPtosis; Short, upturned noseLarge, squared nose tipProminent nasal root on profile; Thick/prominent/everted lower lipCleft lip/palate (in some patients)Long philtrumThin upper lipLarge mouth; Short neck (in some patients)Pterygium colli (in some patients); Heart defect (in some patients); Kyphosis/scoliosis (in some patients)Pectus (in some patients); Enlarged ventricles (in some patients)Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients)Epilepsy; Caused by mutation in the gamma-1 actin gene (ACTG1,)]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 2:26 p.m.
Phenotypes for ACTG1 were set to hearing loss; Deafness, autosomal dominant 20/26, 604717; Baraitser-Winter syndrome 2, 614583; #604717; Hearing loss, sensorineural, bilateral, progressive; Hearing loss begins with loss of high frequencies; Audiogram shows sloping configuration; Deafness, profound, by 6th decade; Trigonocephaly/metopic ridge; Prominent/full/wide cheeks; Pointed chin; Retrognathia (in some patients); Abnormally shaped ears; Deafness (in some patients); Microphthalmia (in some patients); Arched eyebrows; Long palpebral fissures; Eye coloboma (in some patients); Hypertelorism/telecanthus; Ptosis; Short, upturned nose; Large, squared nose tip; Prominent nasal root on profile; Thick/prominent/everted lower lipCleft lip/palate (in some patients); Long philtrum; Thin upper lip; Large mouth; Short neck (in some patients); Pterygium colli (in some patients); Heart defect (in some patients); Kyphosis/scoliosis (in some patients); Pectus (in some patients); Enlarged ventricles (in some patients); Intellectual disabilityPachygyria/lissencephalyAgenesis of corpus callosum (in some patients); Epilepsy
Publications for ACTG1 were set to PMID:10524632; 11474115; 12388543; 12519370; 13680526; 14684684; 16773128; 16950128; 19477959; 20847274; 22366783; 2837653; 3351890; 3472224; 3737401; 5654493; 6865942; 8941379
Mode of inheritance for ACTG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for ACTG1 were set to
ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Expert list
ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory
ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert