| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in HaematuriaComponent of the following Super Panels:
R-numbers: R194 Signed-off version 2.14 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Alport syndrome 1, X-linked OMIM:301050 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.57 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes #301050:Alport syndrome, diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6, hearing loss |
Green in Proteinuric renal diseaseComponent of the following Super Panels:
R-numbers: R195 Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Alports, Familial benign haematuria, Alport syndrome, proteinuria, haematuria, FSGS |