MPLKIP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Anophthalmia or microphthalmia

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• trichothiodystrophy 4, nonphotosensitive

  0.71

• trichothiodystrophy

  0.60

• trichothiodystrophy 1, photosensitive

  0.33

• DNA methylation

  0.32

• hereditary disease

  0.19

• microcephaly

  0.19

• migraine disorder

  0.16

• stroke disorder

  0.15

• alcohol drinking

  0.15

• abdominal aortic aneurysm

  0.15

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

Protein function (UniProt)