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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
    1
    1. ClingenBaseline 23 Oct 2026
      Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR

      PMID: 37089697

      Gene: CTNNB1

      HGNC: 2514

      Disease: severe intellectual disability-progressive spastic diplegia syndrome

      MONDO: 0014035

      InheritancePattern: autosomal dominant

      Prevalence: The incidence is unknown but estimated to be between 1 in 30,000 and 1 in 40,000 births (PMID: 32168371).

      Penetrance: The penetrance of the cognitive impairment phenotype among cases appears to be near-complete, while the exudative vitreoretinopathy phenotype reportedly has a prevalence of ~39% among affected individuals with a syndromic diagnosis.

      General ClinGen Gene:CTNNB1 HGNC:2514 inferred_gene_hgnc:2514 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC10115361/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature
    1
    1. ClingenBaseline 22 Oct 2026
      Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature

      PMID: 32039639

      Gene: CTNNB1

      HGNC: 2514

      Disease: severe intellectual disability-progressive spastic diplegia syndrome

      MONDO: 0014035

      InheritancePattern: autosomal dominant

      Prevalence: The incidence is unknown but estimated to be between 1 in 30,000 and 1 in 40,000 births (PMID: 32168371).

      Penetrance: The penetrance of the cognitive impairment phenotype among cases appears to be near-complete, while the exudative vitreoretinopathy phenotype reportedly has a prevalence of ~39% among affected individuals with a syndromic diagnosis.

      General ClinGen Gene:CTNNB1 HGNC:2514 inferred_gene_hgnc:2514 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/32039639/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
    1
    1. ClingenBaseline 22 Oct 2026
      Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

      PMID: 28575650

      Gene: CTNNB1

      HGNC: 2514

      Disease: severe intellectual disability-progressive spastic diplegia syndrome

      MONDO: 0014035

      InheritancePattern: autosomal dominant

      Prevalence: The incidence is unknown but estimated to be between 1 in 30,000 and 1 in 40,000 births (PMID: 32168371).

      Penetrance: The penetrance of the cognitive impairment phenotype among cases appears to be near-complete, while the exudative vitreoretinopathy phenotype reportedly has a prevalence of ~39% among affected individuals with a syndromic diagnosis.

      General ClinGen Gene:CTNNB1 HGNC:2514 inferred_gene_hgnc:2514 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5473728/
  5. www.sciencedirect.com www.sciencedirect.com
    Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
    1
    1. ClingenBaseline 22 Oct 2026
      VIII

      CaseVIII: Early adult onset, 56 years diagnosis

      CasePresentingHPOs: HP:0003701, HP:0003236, HP:0003388, HP:0003326, HP:0003198 (Proximal muscle weakness, Increased serum CK, Easy fatiguability, Myalgia, Myopathy)

      HPOsFreeText: GAA activity from dried blood spot: 0.13%, Forced Vital Capacity Seated: 2480 (75%), Plasma CK 2.5-5x Normal, 6-Minute Walking Test: 385 min

      CaseNotHPOs: HP:0002795 (Abnormal respiration)

      CaseAddInfo: Late-Onset Pompe Disease, Reduced staining for dystrophin in patient VIII suggested Becker dystrophy before LOPD diagnosis

      Individual CaseInfo ClinVarID:550355 ClinVarID:4027 inferred_gene_hgnc:2514 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S096089661731489X