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Retinal disorders v8.127 SCLT1 Achchuthan Shanmugasundram changed review comment from: 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.; to: 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.
Retinal disorders v8.127 SCLT1 Achchuthan Shanmugasundram changed review comment from: 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.; to: 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.
Retinal disorders v8.127 SCLT1 Achchuthan Shanmugasundram Classified gene: SCLT1 as Amber List (moderate evidence)
Retinal disorders v8.127 SCLT1 Achchuthan Shanmugasundram Added comment: 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.
Retinal disorders v8.127 SCLT1 Achchuthan Shanmugasundram Gene: sclt1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v8.126 SCLT1 Achchuthan Shanmugasundram Phenotypes for gene: SCLT1 were changed from retinal dystrophy to Retinal dystrophy, HP:0000556
Retinal disorders v8.125 SCLT1 Achchuthan Shanmugasundram Publications for gene: SCLT1 were set to 41963357; 37734845
Retinal disorders v8.124 SCLT1 Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: SCLT1.
Tag Q2_26_NHS_review tag was added to gene: SCLT1.
Retinal disorders v8.124 SCLT1 Achchuthan Shanmugasundram reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28005958, 37734845, 41963357; Phenotypes: Retinal dystrophy, HP:0000556; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.124 SCLT1 Tracy Lester gene: SCLT1 was added
gene: SCLT1 was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 41963357; 37734845
Phenotypes for gene: SCLT1 were set to retinal dystrophy
Penetrance for gene: SCLT1 were set to unknown
Review for gene: SCLT1 was set to GREEN
Added comment: 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