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GenoLensGenoLens

CRYGC

Chr 2q33.3

crystallin gamma C

MANE:
ENST00000282141.4

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bilateral congenital or childhood onset cataracts

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • pulverulent cataract

    0.77
  • early-onset non-syndromic cataract

    0.77
  • cataract

    0.53
  • early-onset zonular cataract

    0.53
  • Autosomal dominant optic atrophy and cataract

    0.52
  • Developmental cataract

    0.51
  • autosomal dominant cataract

    0.51
  • Nuclear pulverulent cataract

    0.49
  • Cataract-microcornea syndrome

    0.47
  • early-onset nuclear cataract

    0.40

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

Protein function (UniProt)

Gamma-crystallin C

Crystallins are the dominant structural components of the vertebrate eye lens

Curated MONDO disease pages that list CRYGC among their top associated genes.

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.