Monogenic hearing loss
Gene: MYO7AEnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 11 panels
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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 confirmedCreated: 29 Jan 2016, 4:06 p.m.
Comment on mode of inheritance: OMIM confirms both AD and ARCreated: 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
-
- Deafness, autosomal dominant 11, OMIM:601317
- Deafness, autosomal recessive 2, OMIM:600060
- Usher syndrome, type 1B, OMIM:276900
- OMIM
- 276903
- Clinvar variants
- Variants in MYO7A
- Penetrance
- Complete
- Publications
-
- 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
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MYO7A were changed from 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 to Deafness, autosomal dominant 11, OMIM:601317; Deafness, autosomal recessive 2, OMIM:600060; Usher syndrome, type 1B, OMIM:276900
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
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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for MYO7A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
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
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
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
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
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
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
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
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