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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. SCLT1
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: SCLT1

Red List (low evidence)
SCLT1 (sodium channel and clathrin linker 1)
EnsemblGeneIds (GRCh38): ENSG00000151466
EnsemblGeneIds (GRCh37): ENSG00000151466
OMIM: 611399, Gene2Phenotype
SCLT1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

One family reported with nonsyndromic RP.
Sources: Literature
Created: 25 May 2020, 6:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic retinitis pigmentosa

Publications

Created: 25 May 2020, 6:14 a.m.

Panel version: 0.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Nonsyndromic retinitis pigmentosa
OMIM
611399
Clinvar variants
Variants in SCLT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SCLT1 was added gene: SCLT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Literature Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 30425282 Phenotypes for gene: SCLT1 were set to Nonsyndromic retinitis pigmentosa Review for gene: SCLT1 was set to RED