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PNP and developmental delay are reported together in 1 article.
Gene
PNP
- HGNC
- HGNC:7892
6articles
6mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels.
PMID 19733163 | DOI 10.1016/j.clinbiochem.2009.08.017 · Clinical biochemistry · 2009 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PNP | “BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive disease in which affected children present with recurrent infection and may present with failure to thrive, neurological impairment, autoimmunity, or malignancy.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “CONCLUSION: This NP missense mutation reported here is associated with recurrent infection, developmental delay, and primary immunodeficiency combined with normal uric acid levels in the affected child most likely due to a residual PNP enzyme activity.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.487T>C | “RESULT: The sequencing analysis showed a novel homozygous missense mutation, c.487T>C in the NP gene, resulting in a substitution of serine by proline at residue 163 (S163P) in the mature NP protein.” | 0.95 | hgvs_regex_v1 |
| variant | S163P | “RESULT: The sequencing analysis showed a novel homozygous missense mutation, c.487T>C in the NP gene, resulting in a substitution of serine by proline at residue 163 (S163P) in the mature NP protein.” | 0.82 | literature_variant_regex_v2 |