TBC1D8B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Proteinuric renal disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• nephrotic syndrome, type 20

  0.62

• familial idiopathic steroid-resistant nephrotic syndrome

  0.37

• nephrotic syndrome

  0.29

• neurodegenerative disease

  0.16

• polycystic ovary syndrome

  0.01

• medical procedure

  0.01

• urogenital neoplasm

  0.01

• focal segmental glomerulosclerosis

  0.01

• osteosarcoma

  0.01

• rheumatoid arthritis

  0.00

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)