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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