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  3. MYO6
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Monogenic 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

Created: 10 Apr 2018, 2:42 p.m.

Panel version: 1.36

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)]

Created: 7 Feb 2016, 8:53 a.m.

Panel version: 0.105

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.
Created: 29 Jan 2016, 4:05 p.m.

Panel version: 0.10

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

semi-dominant mode of inheritance
Created: 19 Oct 2015, 5:41 p.m.
Created: 19 Oct 2015, 5:41 p.m.

Panel version: 0

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.
Created: 2 Jul 2015, 7:51 a.m.

Panel version: 1.36

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