6 Matching Annotations
  1. Jul 2024
    1. Case: patient #5, female

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: TABLE 1

      Variant: NM_000531.6: c.53del (p.His18Profs*20)

      ClinVarID: 97239

      CAID: CA224671

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    2. Case: patient #85, female

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs:

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: TABLE 1

      Variant: NM_000531.6: c.449_451del(p.Leu151Trpfs*36)

      ClinVarID: N/A

      CAID: CA2759533410

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    3. Case: patient #154, male

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: TABLE 1

      Variant: NM_000531.6: c.664-1G>A

      ClinVarID: 97288

      CAID: CA224811

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    4. Case: patient #188, male

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: TABLE 1

      Variant: NM_000531.6: c.835C>T(p.Gln279*)

      ClinVarID: 97341

      CAID: CA224811

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    5. Case: patient #213, male

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: TABLE 1

      Variant: NM_000531.6: c.962C>A(p.Ser321*)

      ClinVarID: 97373

      CAID: CA224859

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)

    6. Case: patient #220, male

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test

      Supplemental Data: Table 1

      Variant: NM_000531.6: c.1005+2T>C

      ClinVarID: 97090

      CAID: CA224431

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)