Monogenic hearing loss
Gene: SLC26A5Comment on list classification: Changing rating from red to green as 3 unrelated cases now reported.Created: 17 Feb 2019, 10:45 p.m.
Provisionally associated with ?Deafness, autosomal recessive 61 (613865) in OMIM.
PMID: 24164807 - Mutai et al (2013) - 2 siblings with hearing loss had compound heterozygous SLC26A5 with c.209G >A (p.W70X) and c.390A >C (p.R130S) mutations. Parents with normal hearing each carry one variant.
PMID: 26824437 - Matsuanga and Morimoto (2016) - abstract only accessed, but same variants in two siblings as reported in Mutai et al. so possibly same family.
PMID: 26969326- Sloan-Heggen et al (2016) - 1 patient with sporadic congenital Autosomal recessive non-syndromic hearing loss found to be heterozygous for 2 missense variants: NM_001167962:c.355C>T, p.Pro119Ser and NM_001167962:c.298G>A, p.Ala100Thr.
3rd case reported by GOSHCreated: 17 Feb 2019, 10:43 p.m.
(Homozygous splice acceptor mutation -2A>G, 1 family, both parents confirmed carriers in our lab): Mutai et al (2013) PMID 24164807 - two sibs compound het nonsense and missense, parents normal hearing each carry one variant. Matsuanga and Morimoto (2016) PMID 26824437 report siblings of same gender with same genotype ? re-report of same family. Sloan-Heggen et al (2016) PMID 26969326 report one patient compound het for two missense variants patient reported to have sporadic congenital onset HL.Created: 17 Feb 2019, 5:50 p.m.
Publications
Comment on list classification: PMID: 12719379 reports variant IVS2-2A>G with an association for recessive non-syndromic deafness in two unrelated families. PMID: 16086836 reports that this variant is not found in significantly more subjects than controls. PMID: 19492055 did not find an association between novel variants and hearing loss. PMID: 24164807 reports the gene as a candidate gene for hearing loss, reporting compound heterozygous mutations in 2 Japanese sisters. PMID: 25262649 a reported pathogenic variant was found at a high allele frequency in controls. They suggest that attention should be paid towards this genes as variants reported to cause non-syndromic hearing loss are questionable. Overall conclusion - not enough evidence for this gene to be included on the green list.Created: 22 Feb 2016, 6:07 p.m.
Mouse models are convincing. Few human variants have been reported.Created: 24 Feb 2016, 11:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#613865:?Deafness, autosomal recessive 61[Hearing loss, bilateral, moderate-to-profound]
Biologically very plausible but very few convincing mutations reported.Created: 13 Oct 2015, 7:50 p.m.
Publications
Gene: slc26a5 has been classified as Green List (High Evidence).
Publications for gene: SLC26A5 were set to PMC4185121 (PMID: 25262649); PMID:10821263; 11423665; 11867734; 12239568; 12719379; 16086836; 17998209; 18776049; 19492055; 21689600; 23212912; 24164807; 25262649
This gene has been classified as Red List (Low Evidence).
Phenotypes for SLC26A5 were set to #613865:?Deafness, autosomal recessive 61; Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 61, 613865; hearing loss
Publications for SLC26A5 were set to PMC4185121 (PMID: 25262649); PMID:10821263; 11423665; 11867734; 12239568; 12719379; 16086836; 17998209; 18776049; 19492055; 21689600; 23212912; 24164807; 25262649
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A5 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 SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A5 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 SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A5 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 SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC26A5 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
SLC26A5 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