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Hearing loss

Gene: MYO7A

Green List (high evidence)

MYO7A (myosin VIIA)
EnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 11 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#276900:Usher syndrome, type 1B[Profound sensorineural hearing lossAbsent vestibular function (caloric test); Retinitis pigmentosaExtinction of electroretinogram (before age 10)Visual loss; Delayed motor development]; #600060:Deafness, autosomal recessive 2[Hearing loss, sensorineural, prelingualHearing loss affects all frequencies; Vestibular dysfunctionVertigo]; #601317:Deafness, autosomal dominant 11[Hearing loss, sensorineural, moderate, postlingualAudiogram is gently sloping or flatAudiogram may be ascending; Vestibular dysfunction, mildVertigo, mild]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:06 p.m.
Comment on mode of inheritance: OMIM confirms both AD and AR
Created: 29 Jan 2016, 4:06 p.m.

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 1 Jun 2018, 2:53 p.m.
Both recessive and dominant forms of nonsyndromic hearing loss are reported by Illumina for this gene.
Created: 2 Jul 2015, 7:55 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • hearing loss
  • Usher syndrome, type 1B, 276900
  • Nonsyndromic Hearing Loss, Dominant
  • #600060:Deafness, autosomal recessive 2
  • Nonsyndromic Hearing Loss, Recessive
  • #601317:Deafness, autosomal dominant 11
OMIM
276903
Clinvar variants
Variants in MYO7A
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 MYO7A were set to hearing loss; Usher syndrome, type 1B, 276900; Nonsyndromic Hearing Loss, Dominant; #600060:Deafness, autosomal recessive 2; Nonsyndromic Hearing Loss, Recessive; #601317:Deafness, autosomal dominant 11

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYO7A were set to PMID:10094549; 10364543; 10414956; 10958658; 11391666; 11468276; 12080385; 12485990; 12743369; 12966030; 15221449; 15660226; 18181211; 20132242; 20639393; 21150918; 21311020; 21901789; 7870171; 7870172; 7951250; 8622919; 8842737; 8884267; 8900236; 9002678; 9070921; 9171832; 9171833; 9286457; 9354784; 9382091; 9620764; 9718342; 9843659

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: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for MYO7A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO7A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO7A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO7A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO7A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO7A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert