Monogenic hearing loss
Gene: SIX1New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#605192:Deafness, autosomal dominant 23[Hearing loss, bilateral, moderate to profound (normal to mild at low frequencies, normal to profound in middle frequencies, and moderate to profound at high frequencies)Preauricular pits (in some patients); Solitary left hypodysplastic kidney (in 1 Swiss German patient); Vesicoureteral reflux (in 1 Swiss German patient)]; #608389:Brachiootic syndrome 3[Hearing loss, progressive, mild to severeBranchial arch defectsPreauricular pitsPreauricular fistulaPreauricular tags; Lacrimal duct stenosisMondini dysplasiaWidened semicircular canals; Branchial cysts; No renal findings]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:19 p.m.
Phenotypes for SIX1 were set to #605192:Deafness, autosomal dominant 23; #608389:Brachiootic syndrome 3; hearing loss; Nonsyndromic Hearing Loss, Dominant
Publications for SIX1 were set to PMID:10512683; 10773454; 10777717; 11262400; 11734542; 12368906; 12843324; 14628042; 14704789; 15141091; 15226428; 16670092; 17637804; 19389353; 19726883; 19726885; 21700001; 22267199; 7720577; 8617500; 9770533
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SIX1 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 SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SIX1 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 SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SIX1 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 SIX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SIX1 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
SIX1 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