LMNB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited white matter disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• White matter disorders and cerebral calcification - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• microcephaly 26, primary, autosomal dominant

  0.72

• Autosomal dominant microcephaly

  0.67

• Adult-onset autosomal dominant leukodystrophy

  0.66

• adult-onset autosomal dominant demyelinating leukodystrophy

  0.49

• hereditary disease

  0.49

• Syndrome with microcephaly as major feature

  0.49

• Alzheimer disease

  0.37

• neurodegenerative disease

  0.37

• autosomal dominant primary microcephaly

  0.37

• hypothyroidism

  0.32

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

Protein function (UniProt)