ClinGen Dosage Sensitivity Curation Page

RFX6

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: MITCHELL-RILEY SYNDROME; MTCHRS

Haploinsufficiency phenotype comments:

Variants in RFX6 have been reported in individuals with Mitchell-Riley syndrome, an autosomal recessive condition.

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