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Hearing loss

Gene: SLC26A5

Green List (high evidence)

SLC26A5 (solute carrier family 26 member 5)
EnsemblGeneIds (GRCh38): ENSG00000170615
EnsemblGeneIds (GRCh37): ENSG00000170615
OMIM: 604943, Gene2Phenotype
SLC26A5 is in 1 panel

5 reviews

Eleanor Williams (Genomics England Curator)

Comment 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 GOSH
Created: 17 Feb 2019, 10:43 p.m.

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

(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

Ellen McDonagh (Genomics England Curator)

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.

Jun Shen (Harvard Medical School)

I don't know

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]

Maria Bitner-Glindzicz (UCL)

I don't know

Biologically very plausible but very few convincing mutations reported.
Created: 13 Oct 2015, 7:50 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • #613865:?Deafness, autosomal recessive 61
  • Nonsyndromic Hearing Loss, Recessive
  • Deafness, autosomal recessive 61, 613865
  • hearing loss
OMIM
604943
Clinvar variants
Variants in SLC26A5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc26a5 has been classified as Green List (High Evidence).

17 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SLC26A5 were set to PMC4185121 (PMID: 25262649); PMID:10821263; 11423665; 11867734; 12239568; 12719379; 16086836; 17998209; 18776049; 19492055; 21689600; 23212912; 24164807; 25262649

22 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC26A5 were set to #613865:?Deafness, autosomal recessive 61; Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 61, 613865; hearing loss

22 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC26A5 were set to PMC4185121 (PMID: 25262649); PMID:10821263; 11423665; 11867734; 12239568; 12719379; 16086836; 17998209; 18776049; 19492055; 21689600; 23212912; 24164807; 25262649

22 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC26A5 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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