Retinal disorders

Gene: SCLT1

Green List (high evidence)

Comment on list classification: As reviewed by Tracy Lester, there is sufficient evidence available (>5 unrelated families) for the association of biallelic SCLT1 variants with non-syndromic inherited retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 28 Apr 2026, 3:37 p.m. | Last Modified: 28 Apr 2026, 3:41 p.m.

Panel Version: 8.127

SCLT1 gene has previously been associated with autosomal recessive syndromic ciliopathies and rated green on relevant panels.

PMID:28005958 (2016) reported a cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES, of which one patient reported with non-syndromic inherited retinal dystrophy was identified with compound heterozygous variants in SCLT1 gene.

PMID:37734845 (2023) reported a cohort of 1,000 probands with inherited retinal degeneration or inherited optic neuropathy, of which one patient with cone-rod dystrophy was identified to carry a heterozygous canonical splice site variant (predicted to alter the splice acceptor site of intron 15) in trans with a 1.4 kb deletion of the last coding exon (exon 21).

PMID:41963357 (2026) reported seven patients from six unrelated families with clinical phenotypes of retinal degeneration (early-onset severe retinal dystrophy or rod-cone dystrophy) associated with rare biallelic variants in SCLT1 gene. Five of these families were clearly or presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD. Ten different variants were identified in these patients, of which eight are novel variants. Five of ten variants affected splicing and one of the detected variants was a ~76kb in-frame tandem duplication encompassing exon 3-10 of the gene.

Created: 28 Apr 2026, 3:34 p.m. | Last Modified: 28 Apr 2026, 3:43 p.m.

Panel Version: 8.127

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy, HP:0000556

Publications

• 28005958
• 37734845
• 41963357

Green List (high evidence)

The authors describe five families with non-syndromic IRD and compound heterozygous for SLCT1 variants - 8 variants were novel. 4 missense, 2 single AA dels, 3 intronic. Four of these variants shown to impact splicing. A large in-frame tandem dup also reported. Another comp het case with IRD reported by Weisschuh et al
Meets criteria to be green on R32 panel.
Sources: NHS GMS

Created: 24 Apr 2026, 7:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinal dystrophy

Publications

• 41963357
• 37734845