ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: RENAL TUBULAR DYSGENESIS; RTD

Haploinsufficiency phenotype comments:

Biallelic loss of function mutations in AGT result in autosomal recessive renal tubular dysgenesis. See PMIDs: 17036344, 22095942. There have also been several associations established between AGT polymorphisms and health conditions, notably hypertension. These are described in OMIM (106150).

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

Triplosensitivity phenotype comment:

Yu et al., 2012 report a male patient with diaphragmatic hernia and other congenital anomalies who had a de novo mosaic 104 Mb duplication of most of 1q. The authors theorized that AGT could be involved in the presence of diaphragmatic hernia. However, no focal duplication of AGT have been reported.