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| Retinitis pigmentosa_Autosomal Dominant v0.67 | PDE6B | Zornitza Stark Phenotypes for gene: PDE6B were changed from Inherited retinal dystrophy MONDO:0019118, PDE6B-related; Night blindness, congenital stationary, autosomal dominant 2, MIM#163500 to Night blindness, congenital stationary, autosomal dominant 2, MIM#163500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.66 | PDE6B | Zornitza Stark Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.65 | PDE6B | Zornitza Stark changed review comment from: Definitive by ClinGen for the recessive phenotype (RP). Dominant association yet to be curated.; to: Definitive by ClinGen for the recessive phenotype (RP). Dominant association yet to be curated: MOI set to mono allelic as per the scope of this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.65 | PDE6B | Zornitza Stark Marked gene: PDE6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.65 | PDE6B | Zornitza Stark Gene: pde6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.65 | PDE6B | Zornitza Stark Phenotypes for gene: PDE6B were changed from Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa 40 to Inherited retinal dystrophy MONDO:0019118, PDE6B-related; Night blindness, congenital stationary, autosomal dominant 2, MIM#163500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.64 | PDE6B | Zornitza Stark Publications for gene: PDE6B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.63 | PDE6B | Zornitza Stark reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inherited retinal dystrophy MONDO:0019118, PDE6B; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.57 | PDE6B | Sangavi Sivagnanasundram reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8075643, 17044014, 24760071; Phenotypes: congenital stationary night blindness autosomal dominant 2 MONDO:0008099; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.0 | PDE6B |
Bryony Thompson gene: PDE6B was added gene: PDE6B was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PDE6B were set to Night blindness, congenital stationary, autosomal dominant 2, 163500; Retinitis pigmentosa 40 |
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