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This Panel is marked as Internal

Intellectual_disability
Gene: OTC

OTC (ornithine carbamoyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000036473
EnsemblGeneIds (GRCh37): ENSG00000036473
OMIM: 300461, Gene2Phenotype
OTC is in 7 panels

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Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Known gene (Grozeva et al, 2015)
Radboud University Medical Center, Nijmegen

Phenotypes

CGD Ornithine transcarbamylase deficiency, 311250
Intellectual disability

OMIM

Clinvar variants

Variants in OTC

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

OTC was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

OTC was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

OTC was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OTC was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen