CKAP2L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

Disease associations (Open Targets)

• Filippi syndrome

  0.76

• polydactyly

  0.37

• pericarditis

  0.27

• Intellectual disability

  0.26

• hypogonadism

  0.26

• hereditary disease

  0.19

• central nervous system cancer

  0.10

• neoplasm

  0.10

• glioma

  0.09

• cancer

  0.09

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

Protein function (UniProt)