Gene

SLC26A4

solute carrier family 26 member 4

Cytogenetic location: 7q22.3
Coordinates: Chromosome 7: 107,660,828–107,717,809 (GRCh38)
Exons: 21 exons across 57 kb
Protein: 780 amino acids
Inheritance: Autosomal recessive
Also known as: PDS
Previous symbols: DFNB4
MANE Select transcript: ENST00000644269.2NM_000441.2
Locus type: gene with protein product

Very high
Confident
Low
Very low

Reference genomeGRCh38hg38

Positions on gene and variant pages follow this choice, in this browser.

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Curated reports relevant to this gene

Congenital Hypothyroidism
- A thyroid hormone deficiency present from birth.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
Pendred Syndrome
- Autosomal recessive
  Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
  What knowing changes
  Hearing aids progressing to cochlear implantation; thyroid monitoring (annual TSH, thyroid ultrasound); avoidance of head trauma; surgical cochlear implantation with EVA-specific technique; levothyroxine if hypothyroid
- Autosomal recessive nonsyndromic hearing loss 4 (enlarged vestibular aqueduct)Autosomal recessive
  SLC26A4-related hearing loss with an enlarged vestibular aqueduct but without goitre; part of the same spectrum as Pendred syndrome.
  - 3 GenCC submitters rate it definitive or strong
Thyroid Cancer
- Inherited Thyroid Metabolism Disease
  An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
- Hypothyroidism
  Abnormally low levels of thyroid hormone.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong
- Thyroid Gland Disorder
  A disease involving the thyroid gland.
  - ClinGen rates the link definitive
  - 4 GenCC submitters rate it definitive or strong

Broader groupings

Hearing Loss and Deafness
- Nonsyndromic Genetic Hearing Loss
  One of 97 genes linked to it
  Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.
  - 3 GenCC submitters rate it definitive or strong
  What knowing changes
  Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

Inheritance

Autosomal recessive: It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How a genome test reads SLC26A4

444

positions in SLC26A4 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 57 kb of SLC26A4, introns included, not only the 4.7 kb of exons.

Variants with a page (14)

The SLC26A4 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
c.919-2A>GIVS7-2A>G		Intron 7	107,683,453	Pathogenic	3 stars out of 4 reviewed by expert panel
C282Y	c.845G>A	Exon 7	107,683,281	Likely pathogenic	3 stars out of 4 reviewed by expert panel
C565Y	c.1694G>A	Exon 15	107,700,162	Likely pathogenic	3 stars out of 4 reviewed by expert panel
F335L	c.1003T>C	Exon 9	107,689,054	Likely pathogenic	3 stars out of 4 reviewed by expert panel
I124Yfs*58	c.365dup	Exon 4	107,672,192	Pathogenic	3 stars out of 4 reviewed by expert panel
I655V	c.1963A>G	Exon 17	107,701,986	Likely pathogenic	3 stars out of 4 reviewed by expert panel
K715N	c.2145G>T	Exon 19	107,710,109	Likely pathogenic	3 stars out of 4 reviewed by expert panel
L117F	c.349C>T	Exon 4	107,672,182	Pathogenic	3 stars out of 4 reviewed by expert panel
L236V	c.706C>G	Exon 6	107,675,050	Pathogenic	3 stars out of 4 reviewed by expert panel
R185T	c.554G>C	Exon 5	107,674,302	Likely pathogenic	3 stars out of 4 reviewed by expert panel

See all 14 SLC26A4 variants →

Traits linked to SLC26A4

The Human Phenotype Ontology lists these as features of the rare conditions SLC26A4 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the ear

Abnormality of the endocrine system

Abnormality of the nervous system

Abnormality of the digestive system

Abnormality of head or neck

Laboratory abnormality

Abnormality of the musculoskeletal system

Abnormality of the respiratory system

Constitutional symptom

Growth abnormality

Abnormality of the genitourinary system

Kidney damage

Abnormality of the voice

Hoarse cry

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SLC26A4 gene: solute carrier family 26 member 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc26a4

Vancouver

Dante Labs. SLC26A4 gene: solute carrier family 26 member 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc26a4

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