SLC26A4

solute carrier family 26 member 4

2 disorders 2 causative 7q22.3 gene with protein product

HGNC:8818 Monarch NCBI Gene 5172 ENSG00000091137 UniProt O43511 OMIM 605646

Previous symbols: DFNB4. Aliases: PDS.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Congenital Hypothyroidism	causative	mechanism: Defective Thyroid Hormone Biosynthesis scoped to subtype: Dyshormonogenesis
Pendred Syndrome	causative loss of function	mechanism: Biallelic SLC26A4 Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Pendred syndrome MONDO:0010134	AR	Definitive 2017-06-07	Pendred Syndrome causative

Mechanism modules · computed from kb/

hypothyroidism_thyroid_hormone_deficiency via Congenital Hypothyroidism

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.