CDT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Deafness and congenital structural abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Ear-patella-short stature syndrome

  0.79

• neurodegenerative disease

  0.45

• Meier-Gorlin syndrome

  0.44

• microcephalic primordial dwarfism

  0.37

• hereditary disease

  0.19

• actinic keratosis

  0.15

• hepatocellular carcinoma

  0.11

• cancer

  0.10

• lung carcinoma

  0.10

• lung cancer

  0.10

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

Protein function (UniProt)