Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220, Bestrophinopathy, autosomal recessive , OMIM:611809, Macular dystrophy, vitelliform, 2, OMIM:153700, Retinitis pigmentosa, concentric, OMIM:613194, Retinitis pigmentosa-50, OMIM:613194, Vitreoretinochoroidopathy, OMIM:193220 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.79 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, OMIM:193220, Bestrophinopathy, autosomal recessive , OMIM:611809, Macular dystrophy, vitelliform, 2, OMIM:153700, Retinitis pigmentosa, concentric, OMIM:613194, Retinitis pigmentosa-50, OMIM:613194, Vitreoretinochoroidopathy, OMIM:193220 |