ClinGen Dosage Sensitivity Curation Page

HPRT1

  • Curation Status: Complete

Location Information

  • Xq26.2-q26.3
  • GRCh37/hg19 chrX: 133,594,175-133,634,698
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chrX: 134,460,145-134,500,668
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000023.10) (NC_000023.11)

Haploinsufficiency phenotype comments:

Loss of function mutations in HPRT1 cause Lesch-Nyhan syndrome in males. Deletions and intragenic duplications resulting in loss of function are frequent mutation types. Female carriers are typically unaffected (except for rare cases of skewed X-inactivation) but may develop symptoms of hyperuricemia in later years. See GeneReviews and Jinnah et al (2000, PMID: 11018746).

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

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

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.