| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in HaematuriaR-numbers: R194 Signed-off version 2.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes diffuse leiomyomatosis with Alport syndrome = contiguous gene syndrome with COL4A6, Alport syndrome, 301050, Hematuria, Benign Familial, Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive, Alport Syndrome, Autosomal Dominant, thin glomerular basement membrane nephropathy or Alport syndrome, Alport syndrome, (originally on Alport syndrome gene panel) |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | 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 diseaseR-numbers: R195 Signed-off version 4.13 | 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 |
R-numbers: R257 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Alport syndrome 301050 |