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HPRT1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HPRT1 (HGNC:5157) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- hypoxanthine phosphoribosyltransferase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HPRT
- Alias symbols
- HGPRT
- %HI
- 8.48(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.94(Read more about gnomAD pLI score)
- LOEUF
- 0.34(Read more about gnomAD LOEUF score)
- Cytoband
- Xq26.2-q26.3
- Genomic Coordinates
-
GRCh37/hg19: chrX:133594195-133634698 NCBI Ensembl UCSC GRCh38/hg38: chrX:134460165-134500668 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000194.3 ENST00000298556.8 (Read more about MANE Select)
- Function
- Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5- phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Lesch-Nyhan syndrome Monarch
-
PUBMED:
11018746
Jinnah (2000) reviewed 271 inherited mutations causing HPRT deficiency. The cases include over 90 loss of function variants (nonsense variants, splice site varaints, frameshifts and exonic deletions). They show that pathogenic HPRT1 variants are associated with a spectrum of disease that ranges from hyperuricemia alone to hyperuricemia with profound neurological and behavioral dysfunction. Loss of function variants result in the more severe end of the spectrum causing Lesch-Nyhan syndrome and since the disease is inherited in an X-linked recessive manner, nearly all cases were males. However, at least five females with a typical LND phenotype (due to skewed X-inactivation) have been reported. Female carriers although typically unaffected may develop symptoms of hyperuricemia in later years.
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 (TS) Score Details
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.
