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| Cataract v0.587 | SLC7A8 | Zornitza Stark Marked gene: SLC7A8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.587 | SLC7A8 | Zornitza Stark Gene: slc7a8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.587 | SLC7A8 |
Zornitza Stark gene: SLC7A8 was added gene: SLC7A8 was added to Cataract. Sources: Literature Mode of inheritance for gene: SLC7A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A8 were set to 40229141; 31231240 Phenotypes for gene: SLC7A8 were set to Cataract, MONDO:0005129, SLC7A8-related Review for gene: SLC7A8 was set to RED Added comment: PMID 31231240 reports 2 affected siblings with autosomal recessive congenital bilateral sutural and zonular cataract caused by a homozygous frameshift c.1305del (p.Phe436Serfs*22) that abolishes LAT2 transport activity in HeLa cells. PMID 40229141 reports a single child from an unrelated family with compound heterozygous SLC7A8 variants (c.1017-1G>T splice-site and c.289G>A missense) and cataract; a minigene assay shows exon skipping for the splice variant. No other functional data, one of the variants is homozygous, hence RED rating. Sources: Literature |
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