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Hearing loss

Gene: ACTG1

Green List (high evidence)

ACTG1 (actin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 8 panels

4 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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 confirmed
Created: 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

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

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

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for ACTG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 3

Set publications

Damian Smedley (Genomics England Curator)

Publications for ACTG1 were set to

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

ACTG1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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