COL4A5

collagen type IV alpha 5 chain
OMIM: 303630
PanelMode of inheritanceDetails
4 panels
Green
in Haematuria
R-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 Hearing loss
R-numbers: R67
Signed-off version 2.5
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
R-numbers: R195
Signed-off version 2.32
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 1.2
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