Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: MYO6

Green List (high evidence)

MYO6 (myosin VI)
EnsemblGeneIds (GRCh38): ENSG00000196586
EnsemblGeneIds (GRCh37): ENSG00000196586
OMIM: 600970, Gene2Phenotype
MYO6 is in 2 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy[Hearing loss, sensorineural, progressive (moderate to profound)]; #607821:Deafness, autosomal recessive 37[Hearing loss, sensorineural, bilateral (severe to profound)Vestibular dysfunction (in 2 patients); Retinitis pigmentosa (in 1 patient)Congenital stationary night blindness (in 1 patient)]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 4:05 p.m.
Comment on mode of inheritance: Evidence from OMIM suggests both as well
Created: 29 Jan 2016, 4:05 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

semi-dominant mode of inheritance
Created: 19 Oct 2015, 5:41 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, 7:51 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
  • Nonsyndromic Hearing Loss, Dominant
  • Deafness, autosomal dominant 22, 606346
  • Nonsyndromic Hearing Loss, Recessive
  • #606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
  • #607821:Deafness, autosomal recessive 37
OMIM
600970
Clinvar variants
Variants in MYO6
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 MYO6 were set to Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal dominant 22, 606346; Nonsyndromic Hearing Loss, Recessive; #606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy; #607821:Deafness, autosomal recessive 37

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MYO6 were set to PMID:10519557; 11167014; 11468689; 11707568; 12134162; 12687499; 12966030; 15006355; 15060111; 15123708; 15721263; 15944696; 16908842; 16949370; 18212818; 18348273; 19417007; 19744958; 7493015; 7929586; 8884266; 9259267

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 MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO6 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)

MYO6 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