Activity
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8 actions
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| Retinal disorders v7.8 | STX3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: STX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | STX3 | Achchuthan Shanmugasundram commented on gene: STX3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.7 | STX3 |
Achchuthan Shanmugasundram Source NHS GMS was added to STX3. Source Expert Review Green was added to STX3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Classified gene: STX3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated families and functional studies) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | STX3 | Achchuthan Shanmugasundram Gene: stx3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.4 | STX3 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.4 | STX3 |
Achchuthan Shanmugasundram gene: STX3 was added gene: STX3 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX3 were set to 33974130 Phenotypes for gene: STX3 were set to Retinal dystrophy and microvillus inclusion disease, OMIM:619446 Review for gene: STX3 was set to GREEN Added comment: PMID:33974130 assembled a cohort of ten individuals from eight families with microvillus inclusion disease (MVID), which included follow up of five previously reported individuals and five new individuals. All of them had homozygous loss-of-function nonsense variants in STX3 gene. Eight of them presented with a novel syndrome consisting of MVID and early-onset severe retinal dystrophy (EOSRD). All six different variants identified in individuals with MVID and EOSRD are located in exons shared between the STX3A and the STX3B transcripts, while the single variant (p.Arg247Ter) present in other two individuals with MVID only is located in exon 9A and it spares STX3B transcript. Functional studies showed that STX3B transcript is highly expressed in human retina and that the protein is enriched in the inner and outer segments of photoreceptors and in ribbon synapses of the human retina. The study also showed that the inactivation of Stx3 in murine rod photoreceptors leads to a progressive degeneration of photoreceptors, corroborating a recently published study that used a different Stx3 knockout mouse line. In summary, biallelic variants affecting both STX3A and STX3B transcripts cause MVID and EOSRD, while variants affecting only STX3A transcript cause MVID. This gene has been associated with both phenotypes in OMIM (MIMs #619445 & #619446), but not yet in Gene2Phenotype. Sources: Literature |
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