ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)

Haploinsufficiency phenotype comments:

Changes in this gene are associated with autosomal recessive congenital adrenal hyperplasia. White (1988): Identified a 30 kb deletion of CYP21A2 in 13 probands with CAH. This mutation is found in 29% of salt-wasting cases. White(1988) also identified an 8-bp deletion which is present in about 8% of the salt-wasting CAH cases (3260033). Wedell (1992): Identified a GG dinucleotide to a C in exon 10, resulting in a frameshift at arginine-484 and a predicted protein with 57 additional amino acids in the C-terminal end in a patient with severe steroid 21-hydroxylase deficiency (PMID: 1496017).

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