ClinGen Dosage Sensitivity Curation Page

FAH

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: TYROSINEMIA, TYPE I; TYRSN1

Haploinsufficiency phenotype comments:

Homozygous and compound heterozygous variants cause Hereditary Tyrosinemia Type 1

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

Triplosensitivity phenotype comment:

no evidence for triplosensitivity