Monogenic hearing loss
Gene: MYO7A
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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]
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.
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.
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
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
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
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MYO7A was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYO7A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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