ClinGen Dosage Sensitivity Curation Page

ROGDI

  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: KOHLSCHUTTER-TONZ SYNDROME; KTZS

Haploinsufficiency phenotype comments:

Variants in ROGDI have been described in Kohlschutter-Tonz syndrome, an autosomal recessive condition.

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