17 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    14
    1. ClingenBaseline 21 Oct 2026

      CaseOPOPD-63: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.05 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2024_2026delACA (p.Asn675del)

      ClinVar: 189006 https://www.ncbi.nlm.nih.gov/clinvar/variation/189006/

      gnomAD: East Asian 1.106e-4, Overall 8.275e-6 http://gnomad.broadinstitute.org/variant/17-78086806-CACA-C

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 3 other people have this genotype

      CaseInfo Individual ClinVarID:92467 ClinVarID:189006 inferred_gene_hgnc:14234 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 21 Oct 2026

      CaseIP2-11: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.15 umol/hr/L, Serum CK at 662 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.2303C>T (p.Pro768Leu)

      CAID: CA401324900 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2303C%3ET

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 3 are in trans and that 2 is in cis with one of them

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 CA401324900 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 21 Oct 2026

      CaseOPOPD-47: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.83 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1461C>G (p.Phe487Leu)

      CAID: CA401366857 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1461C%3EG

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod CA401366857 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    4. ClingenBaseline 21 Oct 2026

      CaseOPOPD-52: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.13 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1850T>G (p.Val617Gly)

      CAID: CA401369628 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1850T%3EG

      gnomAD: Not in gnomAD

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod CA401369628 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    5. ClingenBaseline 21 Oct 2026

      CaseOPOPD-72: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.31 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2662G>T (p.Glu888Ter)

      ClinVar: 578595 https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: East Asian 2.719e-4, Overall 1.998e-5 http://gnomad.broadinstitute.org/variant/17-78092467-G-T

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:578595 ClinVarID:92467 inferred_gene_hgnc:1393 inferred_gene_source:ClinVar GAA variant
    6. ClingenBaseline 21 Oct 2026

      CaseOPOPD-38: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.56 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.784G>A (p.Glu262Lys)

      ClinVar: 188806 https://www.ncbi.nlm.nih.gov/clinvar/variation/188806/

      gnomAD: East Asian 5.016e-5, Overall 1.417e-5 http://gnomad.broadinstitute.org/variant/17-78081447-G-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:188806 ClinVarID:92467 inferred_gene_hgnc:17642 inferred_gene_source:ClinVar GAA variant
    7. ClingenBaseline 21 Oct 2026

      CaseOPTPD-1: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.47 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.546+5G>T

      ClinVar: 557811 https://www.ncbi.nlm.nih.gov/clinvar/variation/557811/

      gnomAD: East Asian 4.978e-4, Overall 3.824e-5 http://gnomad.broadinstitute.org/variant/17-78078936-G-T

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with only one copy, 2 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:557811 ClinVarID:92467 inferred_gene_hgnc:12403 inferred_gene_source:ClinVar GAA variant
    8. ClingenBaseline 21 Oct 2026

      CaseIP2-4: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.08 umol/hr/L, Serum CK at 385 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1194+2T>C

      ClinVar: 370077 https://www.ncbi.nlm.nih.gov/clinvar/variation/370077/

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in trans, also that Variant 3 is in cis with only one of them

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370077 ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:2209 inferred_gene_source:ClinVar GAA variant
    9. ClingenBaseline 21 Oct 2026

      CaseOPM-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.34 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.693-5C>T

      CAID: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation, Nomenclature indicates Variants 1 and 2 are in cis and the other allele is Wildtype

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    10. ClingenBaseline 21 Oct 2026

      CaseOPOPD-10: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.34 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.693-5C>T

      ClinVar: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    11. ClingenBaseline 21 Oct 2026

      CaseOPOPD-62: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.85 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2024_2026delACA (p.Asn675del)

      ClinVar: 189006 https://www.ncbi.nlm.nih.gov/clinvar/variation/189006/

      gnomAD: East Asian 1.106e-4, Overall 8.275e-6 http://gnomad.broadinstitute.org/variant/17-78086806-CACA-C

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 3 other people have this genotype

      ClinVarID:189006 CaseInfo Individual ClinVarID:92467 inferred_gene_hgnc:14234 inferred_gene_source:ClinVar GAA variant
    12. ClingenBaseline 21 Oct 2026

      CaseOPOPD-67: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.93 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2236T>G (p.Trp746Gly)

      ClinVar: 556431 https://www.ncbi.nlm.nih.gov/clinvar/variation/556431/

      gnomAD: East Asian 6.410e-4, Overall 3.186e-5 http://gnomad.broadinstitute.org/variant/17-78090813-T-G

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 other patients have this genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:556431 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    13. ClingenBaseline 21 Oct 2026

      CaseOPM-1: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.97 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation, Nomenclature indicates Variants 1 and 2 are in cis and the other allele is Wildtype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    14. ClingenBaseline 21 Oct 2026

      CaseIP2-6: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.02 umol/hr/L, Serum CK at 709 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 2 are in cis and the patient is homozygous for this allele, 2 more patients also have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
    3
    1. ClingenBaseline 21 Oct 2026
      PD/Pathogenic-6

      CasePD/Pathogenic-6: 4 weeks diagnosis

      HPOsFreeText: GAA activity 8.8 (nmol · h−1 · mg−1), Mean percentage of normal 12.3%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Chromosomal code not provided

      Variant3: NP_000143.2:p.N87Tfs*55

      ClinVar: N/A

      gnomAD: N/A

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 21 Oct 2026
      PD/VOUS-3

      CasePD/VOUS-3: 2 weeks diagnosis

      HPOsFreeText: GAA activity 11.3 (nmol · h−1 · mg−1), Mean percentage of normal 15.8%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.664G>A (p.Val222Met)

      ClinVar: 290223 https://www.ncbi.nlm.nih.gov/clinvar/variation/290223/

      gnomAD: South Asian 5.393e-3, Overall 6.931e-4 http://gnomad.broadinstitute.org/variant/17-78079665-G-A

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:290223 inferred_gene_hgnc:8761 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 21 Oct 2026
      PD/VOUS-2

      CasePD/VOUS-2: 2 weeks diagnosis

      HPOsFreeText: GAA activity 16.6 (nmol · h−1 · mg−1), Mean percentage of normal 23.3%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.2069C>T (p.Pro690Leu)

      ClinVar: 424308 https://www.ncbi.nlm.nih.gov/clinvar/variation/424308/

      gnomAD: East Asian 1.077e-4, Overall 2.337e-5 http://gnomad.broadinstitute.org/variant/17-78087045-C-T

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:424308 inferred_gene_hgnc:6547 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5413112/