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WNT1 and osteogenesis imperfecta are reported together in 3 articles.
Gene
WNT1
- HGNC
- HGNC:12774
4articles
4mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Osteogenesis imperfecta
27articles
27mentions
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
3 records shown · first 60Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
PMID 32413570 | DOI 10.1016/j.ejmg.2020.103954 · European journal of medical genetics · 2020 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WNT1 | “The three previously reported homozygous variants including [c.497G > A; p.(Arg166His)] in the SPARC gene, (c.359-3C > G; intron 2) and [c.677C > T; p.(Ser226Leu)] in the WNT1 gene were identified in family C, D, and E.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Biallelic variants in four genes underlying recessive osteogenesis imperfecta.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SP7 | “The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | SERPINF1 | “The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.” | 0.98 | hgnc_dict_v1 |
Heterozygous WNT1 variant causing a variable bone phenotype.
PMID 30246918 | PMCID PMC6289778 | DOI 10.1002/ajmg.a.40347 · American journal of medical genetics. Part A · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WNT1 | “Heterozygous WNT1 variant causing a variable bone phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Though smaller than the typical (1.5 Mb) 22q11.2 duplication, the duplication in the proband may be responsible for additional nonosseous aspects of his phenotype (hypotonia, developmental delay, small genitalia, strabismus, and depression in preadolescence).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Trp351Arg | “1051 > C; p.Trp351Arg) was identified in the proband and segregated with a bone phenotype in three additional family members, consistent with autosomal dominant inheritance.” | 0.95 | hgvs_regex_v1 |
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
PMID 26671912 | PMCID PMC4898782 | DOI 10.1136/jmedgenet-2015-103476 · Journal of medical genetics · 2016 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WNT1 | “Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.” | 0.98 | phenotype_alias_lexicon_v2 |