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CDC6

Chr 17q21.2

cell division cycle 6

MANE:
ENST00000209728.9

Annotations refreshed 10 hours ago.

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
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • IUGR and IGF abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic short stature

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Ear-patella-short stature syndrome

    0.71
  • neurodegenerative disease

    0.46
  • Meier-Gorlin syndrome

    0.37
  • hepatocellular carcinoma

    0.11
  • microcephaly

    0.11
  • neoplasm

    0.11
  • cancer

    0.11
  • colorectal carcinoma

    0.09
  • breast carcinoma

    0.09
  • breast cancer

    0.09

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

Protein function (UniProt)

DNA replication factor CDC6

Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.