Genomics England
GMS Panels
Panels
Genes and Entities

TBC1D8B

TBC1 domain family member 8B
PanelMode of inheritanceDetails
2 panels
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
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