Renal ciliopathies

Gene: SCLT1

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

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

• 28486600
• 30425282
• 30237576
• 28005958
• 24285566