KBTBD13

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• nemaline myopathy 6

  0.73

• childhood-onset nemaline myopathy

  0.51

• neurodegenerative disease

  0.43

• nemaline myopathy

  0.37

• hereditary disease

  0.19

• intrinsic cardiomyopathy

  0.18

• congenital myopathy 2a, typical, autosomal dominant

  0.13

• colorectal cancer, susceptibility to, 12

  0.12

• autosomal recessive limb-girdle muscular dystrophy type 2L

  0.07

• Congenital myasthenic syndromes

  0.07

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

Protein function (UniProt)