1 Matching Annotations
  1. Jul 2024
    1. Case: no patient ID, Female

      Disease Assertion: UCD/OTCD

      Family Info: N/A

      Case Presenting HPOs: HP:0001951, HP: 0001987

      Case HPO FreeText: episodic hyperammonemia, hyperammonemia

      Case NOT HPOs:

      Case NOT HPO Free Text:

      Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.

      Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.

      Variant: NM_000531.6:c.1052delA(p.Lys351Serfs*44)

      ClinVarID: 915468

      CAID: CA1139667400

      gnomAD:

      Gene Name: OTC (ornithine transcarbamylase)