TBC1D2B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with seizures and gingival overgrowth

  0.75

• neurodevelopmental disorder

  0.37

• neurodegenerative disease

  0.32

• dentures

  0.28

• artificial cardiac pacemaker

  0.27

• hereditary disease

  0.19

• benign urinary system neoplasm

  0.16

• chronic obstructive pulmonary disease

  0.16

• polyp of colon

  0.16

• essential tremor

  0.06

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

Protein function (UniProt)