LDB3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Arrhythmogenic right ventricular cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• myofibrillar myopathy 4

  0.77

• hypertrophic cardiomyopathy

  0.73

• Late-onset distal myopathy, Markesbery-Griggs type

  0.66

• left ventricular noncompaction

  0.59

• cardiomyopathy, dilated, 2l

  0.58

• atrial fibrillation

  0.48

• dilated cardiomyopathy

  0.47

• Rare familial disorder with hypertrophic cardiomyopathy

  0.46

• familial isolated dilated cardiomyopathy

  0.43

• myofibrillar myopathy

  0.42

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

Protein function (UniProt)