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)

Case: no patient ID, Female

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: HP:0003623, HP: 0001987

Case HPO FreeText: Neonatal onset, 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.766G>T(p.Gly256*)

ClinVarID: 870326

CAID: CA412722685

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

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.568dupA(p.Thr190Asnfs*35)

ClinVarID: 870328

CAID: CA916083887

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: no patient ID, male

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: HP:0003623, HP: 0001987

Case HPO FreeText: Neonatal onset, 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.217-2A>G(IVS2)

ClinVarID: 915470

CAID: CA412716751

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)