Renal ciliopathies

Gene: SCLT1

Amber List (moderate evidence)

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

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: PMID: 30425282 reports on individual who had compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) the patient was identified has having a form of ciliopathies that exhibits clinical features of Senior Løken syndrome. SLS is a syndromic form of retinal dystrophy associated with nephronophthisis.

PMID: 24285566 - Reported on a patient with a severe ciliopathy phenotype. A homozygous splice site mutation in the SCLT1 gene was detected, Adly et al. (2014) considered the severe ciliopathy phenotype of their patients to best fit oral–facial–digital syndrome (OFD) type IX in view of the prominent eye involvement no kidney involvement reported

PMID: 32055034 report on SCLT1 related to Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadisma though clinical details on the individual are not provided

PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

Rating gene as Amber as evidence of renal cillopathy phenotype is still limited
Created: 26 Mar 2020, 2:59 p.m. | Last Modified: 26 Mar 2020, 2:59 p.m.
Panel Version: 1.6

Zornitza Stark (Australian Genomics)

I don't know

Emerging ciliopathy gene, at least one report of renal involvement; mouse model recapitulates phenotype.
Sources: Expert list
Created: 3 Jan 2020, 4:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome type IX; Senior-Loken syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Orofaciodigital syndrome type IX
  • Senior-Loken syndrome
OMIM
611399
Clinvar variants
Variants in SCLT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: sclt1 has been classified as Amber List (Moderate Evidence).

26 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: sclt1 has been classified as Amber List (Moderate Evidence).

26 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: sclt1 has been classified as Amber List (Moderate Evidence).

3 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SCLT1 was added gene: SCLT1 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome Review for gene: SCLT1 was set to AMBER