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SCLT1

sodium channel and clathrin linker 1

HCNC Approved Symbol
SCLT1 (HGNC:26406)
Genomic Coordinates
4:128,873,241 - 129,093,539 (4q28.2)
Synonyms
hCAP-1A, FLJ30655
Disease Associations
Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.
View More Disease Info
ContentsPublications
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
PMID:32253632

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the SCLT1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Chorioretinal dystrophy
 2 (100.0%)