3 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    https://www.ncbi.nlm.nih.gov/pubmed/25860818
    3
    1. ClingenBaseline 21 Oct 2026
      Patient 2

      Case2: Male, White, 18 yrs report

      CasePresentingHPOs: HP:0010864, HP:0000717, HP:0002019, HP:0002300, HP:0001250, HP:0012072 (Severe Intellectual disability, Autism, Constipation, Mutism, Seizures, Aciduria)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627, HP:0000175 (Abnormal heart morphology, Cleft palate)

      NotHPOsFreeText: N/A

      CaseAddInfo: Parents are non-consanguineous, Has 22q11.2 deletion so phenotypes other than urinary excretion may result from that

      CasePreviousTesting: Urine analysis at 25 years of age showed an increase of AAA (226 mmol/mol creatinine; ref <14) and KAA (68 mmol/mol creatinine; ref not detected)

      CaseGenotypingMethod: All 17 exons and flanking intronic sequences of DHTKD1 were Sanger sequenced. SSCP analysis confirmed the presence of the 22q11.2 deletion.

      Variant1: NM_018706.5(DHTKD1):c.2185G>A (p.Gly729Arg)

      ClinVar: 39564 https://www.ncbi.nlm.nih.gov/clinvar/variation/39564/

      gnomAD: 0.002748, https://gnomad.broadinstitute.org/variant/10-12154929-G-A

      Variant2: NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)

      ClinVar: 420289 https://www.ncbi.nlm.nih.gov/clinvar/variation/420289/

      gnomAD: 0.0001423, https://gnomad.broadinstitute.org/variant/10-12155062-C-T

      Individual CaseInfo GenotypingMethod Variant inferred_gene_hgnc:23537 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    2. ClingenBaseline 21 Oct 2026
      Patient 3

      Case3: Female, 5 yrs report

      CasePresentingHPOs: HP:0012072 (Aciduria)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo:

      CasePreviousTesting: Partial biotinidase deficiency (19%) was confirmed; Urine AAA (552 mmol/mol creatinine; ref <91) and KAA (251 mmol/mol creatinine) were clearly increased. At 5 years of age, urine AAA and KAA as well as plasma AAA were persistently elevated.

      CaseGenotypingMethod: All 17 exons and flanking intronic sequences of DHTKD1 were Sanger sequenced.

      Variant1: NM_018706.5(DHTKD1):c.2185G>A (p.Gly729Arg)

      ClinVar: 39564 https://www.ncbi.nlm.nih.gov/clinvar/variation/39564/

      gnomAD: 0.002748, https://gnomad.broadinstitute.org/variant/10-12154929-G-A

      Variant2: NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)

      ClinVar: 574714 https://www.ncbi.nlm.nih.gov/clinvar/variation/574714/

      gnomAD: 0.0001316, https://gnomad.broadinstitute.org/variant/10-12136221-G-T

      Individual Variant CaseInfo GenotypingMethod inferred_gene_hgnc:23537 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    3. ClingenBaseline 21 Oct 2026
      Patient 3

      Case3: Female, 5 yrs report

      CasePresentingHPOs: HP:0012072 (Aciduria)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo:

      CasePreviousTesting: Partial biotinidase deficiency (19%) was confirmed; Urine AAA (552 mmol/mol creatinine; ref <91) and KAA (251 mmol/mol creatinine) were clearly increased. At 5 years of age, urine AAA and KAA as well as plasma AAA were persistently elevated.

      CaseGenotypingMethod: All 17 exons and flanking intronic sequences of DHTKD1 were Sanger sequenced.

      Variant1: NM_018706.5(DHTKD1):c.2185G>A (p.Gly729Arg)

      ClinVar: 39564 https://www.ncbi.nlm.nih.gov/clinvar/variation/39564/

      gnomAD: 0.002748, https://gnomad.broadinstitute.org/variant/10-12154929-G-A

      Variant2: NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)

      ClinVar: 574714 https://www.ncbi.nlm.nih.gov/clinvar/variation/574714/

      gnomAD: 0.0001316, https://gnomad.broadinstitute.org/variant/10-12136221-G-T

      Individual Variant CaseInfo GenotypingMethod inferred_gene_hgnc:23537 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
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    link.springer.com/article/10.1007/s10545-015-9841-9