TBC1D8B

TBC1 domain family member 8B
PanelMode of inheritanceDetails
2 panels
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
Steroid-resistant nephrotic syndrome
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
Steroid-resistant nephrotic syndrome