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ASXL2 and congenital heart disease are reported together in 1 article.
Gene
ASXL2
- HGNC
- HGNC:23805
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital heart disease
363articles
363mentions
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 60Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.
PMID 40759503 | DOI 10.1136/bcr-2024-263643 · BMJ case reports · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ASXL2 | “An early adolescent male with Shashi-Pena syndrome (SPS), characterised by a novel heterozygous pathogenic variant (p.Ser627Phefs*22) in the ASXL2 gene, presented with a spectrum of manifestations.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “These encompassed intellectual disability, severe scoliosis, unique facial dysmorphisms, congenital heart disease, recurrent infections and autoimmune cytopenia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “These encompassed intellectual disability, severe scoliosis, unique facial dysmorphisms, congenital heart disease, recurrent infections and autoimmune cytopenia.” | 0.98 | phenotype_alias_lexicon_v2 |