| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 | DYNC2H1 | Zornitza Stark Marked gene: DYNC2H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 | DYNC2H1 | Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 | DYNC2H1 | Zornitza Stark Classified gene: DYNC2H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.97 | DYNC2H1 | Zornitza Stark Gene: dync2h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.96 | DYNC2H1 |
Ee Ming Wong gene: DYNC2H1 was added gene: DYNC2H1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYNC2H1 were set to PMID: 32753734 Phenotypes for gene: DYNC2H1 were set to non-syndromic retinitis pigmentosa Review for gene: DYNC2H1 was set to GREEN gene: DYNC2H1 was marked as current diagnostic Added comment: - Five affected probands with homozygous and compound heterozygous missense and PTC variants - Associated with the NM_001080463.1 transcript (predominant isoform in retina from retinal organoid studies) Sources: Literature |
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