ClinGen Dosage Sensitivity Curation Page

FYCO1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: CATARACT 18; CTRCT18

Haploinsufficiency phenotype comments:

Variants in FYCO1 have been reported in individuals with autosomal recessive cataracts.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity