Genomics England
GMS Panels
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Genes and Entities

TBC1D8B

TBC1 domain family member 8B
PanelMode of inheritanceDetails
1 panel
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
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
Nephrotic syndrome, type 20, OMIM:301028