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| Syndromic Retinopathy v0.178 | STX3 | Zornitza Stark Marked gene: STX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.178 | STX3 | Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.178 | STX3 | Zornitza Stark Phenotypes for gene: STX3 were changed from Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 to Retinal dystrophy and microvillus inclusion disease, MIM#619446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.177 | STX3 | Zornitza Stark Classified gene: STX3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.177 | STX3 | Zornitza Stark Gene: stx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.176 | STX3 | Zornitza Stark edited their review of gene: STX3: Changed phenotypes: Retinal dystrophy and microvillus inclusion disease, MIM#619446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.176 | STX3 |
Zornitza Stark gene: STX3 was added gene: STX3 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: STX3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STX3 were set to 24726755; 29266534; 25358429; 29282386; 30909251; 29282386 Phenotypes for gene: STX3 were set to Microvillus inclusion disease, MIM#619445; Retinal dystrophy and microvillus inclusion disease, MIM#619446 Review for gene: STX3 was set to GREEN Added comment: At least 5 unrelated families reported. STX3 isoform B (STX3B) predominates in the retina, so mutations in the STX3 gene that affect both isoform A (STX3A) and STX3B cause both retinal and gastrointestinal disease (RDMVID), whereas mutations in STX3 affecting only the STX3A transcript cause only diarrhoea. Sources: Expert Review |
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