1 Matching Annotations
  1. Jul 2024
    1. Case: patient #573, male

      Disease Assertion: UCD/OTCD

      Family Info:

      Case Presenting HPOs:hyperammonemia (HP:0001987), Neonatal onset (HP:0003623)

      Case HPO FreeText:

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: GDNA extracted from blood leukocytes using the proteinase K/phenol extraction procedure on a model 340 A nucleic acid extractor (Applied Biosystems). 5mg samples of DNA were digested with BamHI, MspI, or TaqI restriction endonuclease, electrophoresed through 1 % agarose gels, and transferred to a nylon membrane by standard procedures. The blots were then hybridized with a radiolabeled full-length cDNA probe for human OTC.

      Supplemental Data: TABLE 3,

      Variant: NM_000531.6: c.67C>T(p.Arg23*)

      ClinVarID:97292

      CAID: CA224742

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)