Renal Ciliopathies and Nephronophthisis

Gene: SCLT1

I don't know

PMID: 24285566 - 1 patient with a homozygous splice variant, proven to result in a fs and NMD protein. MRI results show agenesis of corpus callosum and pachygyria - no mention of cerebellar hypoplasia or MTS. Additional features include coloboma and cleft lip/palate

PMID: 32253632 - 2 unrelated patients with Bardet-Biedl syndrome. Both patients were chet for the same variants (missense), one found to have splice consequences. Neither patient had polydactyly, but both had ID and renal dysfunction.

PMID: 30425282 - 1 patient (chet splice/splice) with Senior Løken syndrome. Patient had renal dysfunction, mild ID but no MRI performed. Authors suggest biallelic null LOF variants are more severe.

Summary: no JS patients but a clear relationship to similar ciliopathies. Potentially needs adding to the BBS gene list.
Sources: Expert list

Created: 13 May 2020, 4:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome type IX; Senior-Loken syndrome

Publications

• PMID: 24285566
• 32253632
• 30425282

Red List (low evidence)

Only 1 case reported with a renal phenotype (PMID: 30425282)

Created: 3 Jan 2020, 4:42 a.m. | Last Modified: 3 Jan 2020, 4:42 a.m.

Panel Version: 0.52

Green List (high evidence)

Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. Two individuals with BBS and one with Senior-Loken, with renal involvement.
Sources: Expert list

Created: 22 Dec 2019, 7:01 a.m. | Last Modified: 18 Jul 2021, 5 a.m.

Panel Version: 0.320

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome type IX; Senior-Loken syndrome; Bardet-Biedl syndrome

Publications

• 28486600
• 30425282
• 30237576
• 28005958
• 24285566