ClinGen Dosage Sensitivity Curation Page

BTD

  • 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: BIOTINIDASE DEFICIENCY

Haploinsufficiency phenotype comments:

Variants in BTD have been identified in individuals with biotinidase deficiency, an autosomal recessive condition.

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