ClinGen Dosage Sensitivity Curation Page

PAH

  • Curation Status: Complete

Location Information

  • 12q23.2
  • GRCh37/hg19 chr12: 103,232,104-103,311,381
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr12: 102,838,326-102,917,603
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000012.11) (NC_000012.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: PHENYLKETONURIA; PKU

Haploinsufficiency phenotype comments:

Homozygous loss of function mutations in PAH cause phenylketonuria (PKU) and non-PKU hyperphenylalaninemia (non-PKU HPA). Both of these are autosomal recessive conditions.

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