SCLT1

sodium channel and clathrin linker 1

2 disorders 1 untyped 1 no genetic record 4q28.2 gene with protein product

HGNC:26406 Monarch NCBI Gene 132320 ENSG00000151466 UniProt Q96NL6 OMIM 611399

Aliases: hCAP-1A, FLJ30655.

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
Bardet-Biedl syndrome	untyped Pathogenic biallelic variants	mechanism: Ciliary transition zone and basal body dysfunction
Orofaciodigital Syndrome	no genetic record	subtype: OFD IX

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
ciliopathy MONDO:0005308	AR	Definitive 2025-12-08	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Bardet-Biedl syndrome

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