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Retinitis pigmentosa_Autosomal Dominant v0.2 | PITPNM3 | Bryony Thompson Classified gene: PITPNM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Dominant v0.2 | PITPNM3 | Bryony Thompson Gene: pitpnm3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Dominant v0.1 | PITPNM3 | Bryony Thompson reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Dominant v0.0 | PITPNM3 |
Bryony Thompson gene: PITPNM3 was added gene: PITPNM3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITPNM3 were set to 22405330; 17377520 Phenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977 |