Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R237 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Porphyria variegata 176200, Variegate porphyria (Acute neuropathic porphyrias) |
R-numbers: R78 Signed-off version 3.66 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Porphyria variegata, 176200, Skin photosensitivity. Acute episodes similar to AIP |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Porphyria variegata 176200, Variegate porphyria (Acute neuropathic porphyrias) |
Green in Non-acute porphyriasR-numbers: R168 Signed-off version 1.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Variegate porphyria (Acute neuropathic porphyrias), Porphyria variegata 176200 |
Green in Variegate porphyriaR-numbers: R170 Signed-off version 1.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes |