ClinGen Dosage Sensitivity Curation Page

DMRT2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

DMRT2 is believed to be involved in gonadal development. Deletions in distal 9p have been identified in individuals with gonadal dysgenesis, and DMRT2 has been proposed as a candidate gene (PMID: 10857744, PMID: 10999792, PMID: 11720880, PMID: 21048976, 15481033, 10729223, 20138017, 17644778), but at this time, no deletions or loss of function mutationsin DMRT2 alone have been reported in humans with a specific phenotype.

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

Triplosensitivity phenotype comment:

No evidence has been found to support or refute triplosensitivity for this gene.