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WDR62

Chr 19q13.12

WD repeat domain 62

Aliases:
DKFZP434J046, FLJ33298
MANE:
ENST00000401500.7

Annotations refreshed 1 month ago.

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
  • Malformations of cortical development

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Cerebral vascular malformations

Disease associations (Open Targets)

  • autosomal recessive primary microcephaly

    0.81
  • hereditary disease

    0.49
  • Intellectual disability

    0.46
  • Skraban-Deardorff syndrome

    0.36
  • Abnormality of the nervous system

    0.34
  • Abnormality of neuronal migration

    0.33
  • Abnormal cerebral morphology

    0.32
  • atrial fibrillation

    0.25
  • membranous glomerulonephritis

    0.18
  • microcephaly 1, primary, autosomal recessive

    0.13

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

Protein function (UniProt)

WD repeat-containing protein 62

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20729831, PubMed:20890278). Plays a role in mother-centriole-dependent centriole duplication; the function also seems to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806)

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.