Monogenic hearing loss
Gene: ACTG1EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 9 panels
4 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Maria Bitner-Glindzicz (UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Jun Shen (Harvard Medical School)
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
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 2:26 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- 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
- OMIM
- 102560
- Clinvar variants
- Variants in ACTG1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for ACTG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Damian Smedley (Genomics England Curator)Publications for ACTG1 were set to
Upload gene information
Ellen McDonagh (Genomics England Curator)ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Expert list
Upload gene information
Ellen McDonagh (Genomics England Curator)ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert