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PGAP3 and developmental delay are reported together in 2 articles.
Gene
PGAP3
- HGNC
- HGNC:23719
4articles
4mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
intellectual disability 3cleft lip and palate 2developmental delay 2epilepsy 1obesity 1primary congenital glaucoma 1
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
2 records shown · first 60Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
PMID 37647829 | PMCID PMC10872732 | DOI 10.1016/j.ymgme.2023.107688 · Molecular genetics and metabolism · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGAP3 | “Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.” | 0.93 | phenotype_alias_lexicon_v2 |
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
PMID 24439110 | PMCID PMC3928656 | DOI 10.1016/j.ajhg.2013.12.012 · American journal of human genetics · 2014 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGAP3 | “Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GPI | “Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features.” | 0.98 | hgnc_dict_v1 |
| gene | PGAP2 | “Taken together with recent data on PGAP2, these results confirm the importance of the later GPI-anchor remodelling steps for normal neuronal development.” | 0.98 | hgnc_dict_v1 |