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  3. CAD
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Congenital disorders of glycosylation

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 7 panels

2 reviews

Konstantinos Varvagiannis (Other)

I don't know

Please note that 4 additional patients from 3 unrelated families are reported in detail by Koch et al. (PMID: 28007989).
Created: 4 Dec 2018, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 50 - MIM 616457

Publications

Created: 4 Dec 2018, 12:14 p.m.

Panel version: 1.20

Daniel Ungar (University of York, Department of Biology)

Red List (low evidence)

Single reported patient. Biochemistry suggests that other potential patients could have more pleiotropic phenotypes, and may not all fall into the CDG category
Created: 12 Dec 2016, 4:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 4:04 p.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • ?Congenital disorder of glycosylation, type Iz 616457
OMIM
114010
Clinvar variants
Variants in CAD
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

1 Dec 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CAD was added to Congenital disorders of glycosylationpanel. Sources: Other

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CAD was created by sleigh