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  3. SCLT1
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Syndromic Retinopathy

Gene: SCLT1

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three unrelated cases reported with retinal dystrophy as a feature of the condition (2 with BBS and 1 with SLS).
Sources: Expert list
Created: 25 May 2020, 6:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet Biedl syndrome; Senior-Loken syndrome

Publications

Created: 25 May 2020, 6:11 a.m.

Panel version: 0.59

Elena Savva (Victorian Clinical Genetics Services)

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

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

Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version Imported from Joubert syndrome and other neurological ciliopathies panel version 0.48

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype.
Created: 22 Dec 2019, 7:02 a.m. | Last Modified: 22 Dec 2019, 7:02 a.m.
Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome type IX; Senior-Loken syndrome

Publications

Created: 22 Dec 2019, 7:02 a.m.
Last Modified: 22 Dec 2019, 7:02 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet Biedl syndrome
  • Senior-Loken syndrome
OMIM
611399
Clinvar variants
Variants in SCLT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sclt1 has been classified as Green List (High Evidence).

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sclt1 has been classified as Green List (High Evidence).

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 Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 32253632; 30425282 Phenotypes for gene: SCLT1 were set to Bardet Biedl syndrome; Senior-Loken syndrome Review for gene: SCLT1 was set to GREEN