Genes in panel
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Inborn errors of metabolism

Gene: CAD

Red List (low evidence)

CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)
EnsemblGeneIds (GRCh38): ENSG00000084774
EnsemblGeneIds (GRCh37): ENSG00000084774
OMIM: 114010, Gene2Phenotype
CAD is in 6 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Congenital disorder of glycosylation, type Iz 616457
OMIM
114010
Clinvar variants
Variants in CAD
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CAD was added gene: CAD was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAD were set to ?Congenital disorder of glycosylation, type Iz 616457