Case: patient #55, male, Japanese

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: Seizure (HP:0001250), Hyperammonemia (HP:0001987), Intellectual disability (HP:0001249)

Case HPO FreeText: abnormal brain MRI and brain waves, acute liver failure, corneal opacity

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.

Supplemental Data: Table 1

Variant: NM_000531.6:c.c.929_931del(p.Glu310Valfs*45)

ClinVarID: 858012

CAID: CA916083888

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: patient #56, female, Japanese

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: ,Hyperammonemia (HP:0001987)

Case HPO FreeText: N/A

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.

Supplemental Data: Table 1, patient had a liver transplant at 12yo.

Variant: NM_000531.6:c.940G>T(p.Glu314*)

ClinVarID: N/A

CAID: CA412726302

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: patient #52, female, Japanese

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: ,Hyperammonemia (HP:0001987)

Case HPO FreeText: N/A

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.

Supplemental Data: Table 1

Variant: NM_000531.6:c.894G>A(p.Trp298*)

ClinVarID: N/A

CAID: CA412725724

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: patient #51, male, Japanese

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: neonatal(HP:0003623), intellectual disability (HP:0001249), seizure (HP:0001250),Hyperammonemia (HP:0001987)

Case HPO FreeText: Hypertonus, Autism, Acute liver failure. very high blood ammonia

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.

Supplemental Data: Table 1

Variant: NM_000531.6:c.867+1G>C

ClinVarID: N/A

CAID: CA412723994

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)

Case: patient #50, male, Japanese

Disease Assertion: UCD/OTCD

Family Info: N/A

Case Presenting HPOs: Seizure HP:0001250, hyperammonemia HP: 0001987

Case HPO FreeText: Hepatomegaly, Abnormal brain MRI and brain waves, Acute liver failure, Corneal opacity

Case NOT HPOs:

Case NOT HPO Free Text:

Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.

Supplemental Data: Table 1

Variant: NM_000531.6:c.834_840del(p.Gln279Serfs*8)

ClinVarID: N/A

CAID: CA2695233329

gnomAD:

Gene Name: OTC (ornithine transcarbamylase)