1. Panels
  2. Newborns main panel
  3. CAD
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: CAD

Green List (high evidence)
CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)
EnsemblGeneIds (GRCh38): ENSG00000084774
EnsemblGeneIds (GRCh37): ENSG00000084774
OMIM: 114010, Gene2Phenotype
CAD is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35242569 - review 51 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Uridine-responsive epileptic encephalopathy
OMIM
114010
Clinvar variants
Variants in CAD
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CAD were changed from Early infantile epileptic encephalopathy-50 to Uridine-responsive epileptic encephalopathy

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Early infantile epileptic encephalopathy-50 for gene: CAD

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: CAD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CAD. Mode of inheritance for gene CAD was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Early infantile epileptic encephalopathy-50 for gene: CAD Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CAD. Added phenotypes Early infantile epileptic encephalopathy-50 for gene: CAD Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: CAD was added gene: CAD was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAD were set to Early infantile epileptic encephalopathy-50