14 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
    10
    1. ClingenBaseline 21 Oct 2026
      Table 2

      Case2: Male, Belgium

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0002804, HP:0003798, HP:0001558, HP:0001623, HP:0000602 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Arthrogryposis, Decreased fetal movement, Breech presentation, Ophthalmoplegia)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased 10 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    2. ClingenBaseline 21 Oct 2026
      Table 2

      Case4: Male, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 4 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.231G>A (p.Trp77*)

      CAID: CA353478954 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.231G%3EA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    3. ClingenBaseline 21 Oct 2026
      Table 2

      Case13a: Male, Pakistan

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001623, HP:0001561, HP:0000602, HP:0002808 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Breech presentation, Polyhydramnios, Ophthalmoplegia, Kyphosis)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in 3 months, Has a sibling with same genotype/phenotype

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1099_1100delAA (p.Asn367Glnfs*11)

      ClinVar: 162218 https://www.ncbi.nlm.nih.gov/clinvar/variation/162218/

      gnomAD: South Asian 4.575e-4, Overall 5.625e-5 https://gnomad.broadinstitute.org/variant/3-69168405-GTT-G

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    4. ClingenBaseline 21 Oct 2026
      Table 2

      Case1a: Female, Algeria

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001561, HP:0001622, HP:0002804, HP:0003798 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Polyhydramnios, Preterm delivery, Arthrogryposis, Nemaline bodies)

      HPOsFreeText: Bilateral femoral fractures, Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period, Parents are consanguineous

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Linkage analysis combined with homozygosity mapping was used to identify candidate chromosomal loci. Whole exome sequencing in this family revealed likely pathogenic mutations in LMOD3 which agreed with the aforementioned analysis and was consistent with autosomal recessive inheritance.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    5. ClingenBaseline 21 Oct 2026
      Table 2

      Case7: Female, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798, HP:0001561, HP:0001558, HP:0000602 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies, Polyhydramnios, Decreased fetal movements, Ophthalmoplegia)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 1 yr 7 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant1: NM_198271.4:c.349C>T (p.Gln117*)

      CAID: CA353477271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.349C%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1218delA (p.Lys406Asnfs*11)

      CAID: CA909806380 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.1218delA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    6. ClingenBaseline 21 Oct 2026
      Table 2

      Case11b: Male, Sweden

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1069G>T (p.Glu357Ter)

      ClinVar: 162219 https://www.ncbi.nlm.nih.gov/clinvar/variation/162219/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    7. ClingenBaseline 21 Oct 2026
      Table 2

      Case1b: Female, Algeria

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001622 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Preterm delivery)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period, Parents are consanguineous

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Linkage analysis combined with homozygosity mapping was used to identify candidate chromosomal loci. Whole exome sequencing in this family revealed likely pathogenic mutations in LMOD3 which agreed with the aforementioned analysis and was consistent with autosomal recessive inheritance.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    8. ClingenBaseline 21 Oct 2026
      Table 2

      Case7: Female, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798, HP:0001561, HP:0001558, HP:0000602 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies, Polyhydramnios, Decreased fetal movements, Ophthalmoplegia)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 1 yr 7 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant1: NM_198271.4:c.349C>T (p.Gln117*)

      CAID: CA353477271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.349C%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1218delA (p.Lys406Asnfs*11)

      CAID: CA909806380 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.1218delA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    9. ClingenBaseline 21 Oct 2026
      Table 2

      Case11b: Male, Sweden

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1069G>T (p.Glu357Ter)

      ClinVar: 162219 https://www.ncbi.nlm.nih.gov/clinvar/variation/162219/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    10. ClingenBaseline 21 Oct 2026
      Table 2

      Case1b: Female, Algeria

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001622 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Preterm delivery)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period, Parents are consanguineous

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Linkage analysis combined with homozygosity mapping was used to identify candidate chromosomal loci. Whole exome sequencing in this family revealed likely pathogenic mutations in LMOD3 which agreed with the aforementioned analysis and was consistent with autosomal recessive inheritance.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
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    ncbi.nlm.nih.gov/pmc/articles/PMC4347224/
  3. oce.ovid.com oce.ovid.com
    Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria | Ovid
    4
    1. ClingenBaseline 21 Oct 2026
      Patient 2

      Case2: Female, Austria, 18 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002643, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0003798, HP:0001511, HP:0001561, HP:0005216, HP:0002540, HP:0002650 (Facial weakness, Neonatal respiratory distress, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Nemaline bodies, Intrauterine growth restriction, Polyhydramnios, Chewing difficulties, Non-ambulatory, Scoliosis)

      HPOsFreeText: 3/3/5 Apgar score

      CaseNotHPOs: HP:0002015 (Swallowing difficulties)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Whole exome sequencing of the proband revealed these homozygous LMOD3 mutations.

      Variant1: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1004A>G (p.Gln335Arg)

      ClinVar: 374499 https://www.ncbi.nlm.nih.gov/clinvar/variation/374499/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      Patients 3

      Case3: Male, Germany, 20 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0003798, HP:0002650 (Facial weakness, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Nemaline bodies, Scoliosis)

      HPOsFreeText: 7/8/9 Apgar score

      CaseNotHPOs: HP:0002015, HP:0002540, , HP:0002098 (Swallowing difficulties, Non-ambulatory, Respiratory distress)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Next generation sequnecing-based panel analysis detected the below variants in LMOD3.

      Variant1: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1004A>G (p.Gln335Arg)

      ClinVar: 374499 https://www.ncbi.nlm.nih.gov/clinvar/variation/374499/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    3. ClingenBaseline 21 Oct 2026
      Patient 2

      Case2: Female, Austria, 18 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002643, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0003798, HP:0001511, HP:0001561, HP:0005216, HP:0002540, HP:0002650 (Facial weakness, Neonatal respiratory distress, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Nemaline bodies, Intrauterine growth restriction, Polyhydramnios, Chewing difficulties, Non-ambulatory, Scoliosis)

      HPOsFreeText: 3/3/5 Apgar score

      CaseNotHPOs: HP:0002015 (Swallowing difficulties)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Whole exome sequencing of the proband revealed these homozygous LMOD3 mutations.

      Variant1: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1004A>G (p.Gln335Arg)

      ClinVar: 374499 https://www.ncbi.nlm.nih.gov/clinvar/variation/374499/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    4. ClingenBaseline 21 Oct 2026
      Patients 3

      Case3: Male, Germany, 20 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0003798, HP:0002650 (Facial weakness, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Nemaline bodies, Scoliosis)

      HPOsFreeText: 7/8/9 Apgar score

      CaseNotHPOs: HP:0002015, HP:0002540, , HP:0002098 (Swallowing difficulties, Non-ambulatory, Respiratory distress)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Next generation sequnecing-based panel analysis detected the below variants in LMOD3.

      Variant1: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1004A>G (p.Gln335Arg)

      ClinVar: 374499 https://www.ncbi.nlm.nih.gov/clinvar/variation/374499/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    Visit annotations in context

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    oce.ovid.com/article/00006114-201810300-00007/HTML