Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes CHOROIDEREMIA 303100 |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Choroideremia, Eye Disorders, Retinitis pigmentosa, Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) |