| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.164 | PRPH2 | Zornitza Stark Marked gene: PRPH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.164 | PRPH2 | Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.164 | PRPH2 | Zornitza Stark Classified gene: PRPH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.164 | PRPH2 | Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.159 | PRPH2 |
Sangavi Sivagnanasundram gene: PRPH2 was added gene: PRPH2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: ClinGen Mode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PRPH2 were set to 26061163; 31618092 Phenotypes for gene: PRPH2 were set to PRPH2-related retinopathy MONDO:1040055 Review for gene: PRPH2 was set to GREEN Added comment: Classified as Definitive by ClinGen Retina GCEP on 01/02/2024 - https://search.clinicalgenome.org/CCID:005901 AR individuals present with early onset and more severe RP phenotype compared to those with AD variants. LoF appears to be the mechanism of disease for both AR and AD Sources: ClinGen |
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