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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset is in infancy and progressive, so wouldn't see pre-natally. Action taken: Demoted CAD gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
Comment on mode of inheritance: No MOI was given in the original PAGE file or in DDG2P at the time of curation. Have updated the MOI to 'biallelic' to match OMIM, and other PanelApp panels.
Created: 24 Jan 2019, 11:20 a.m.
DDG2P rating in original PAGE list: Confirmed for Uridine-responsive epileptic encephalopathy
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, no MOI was recorded for Uridine-responsive epileptic encephalopathy. In the original PAGE file, no MOP was recorded for Uridine-responsive epileptic encephalopathy.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Uridine-responsive epileptic encephalopathy
OMIM
114010
Clinvar variants
Variants in CAD
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to CAD. Rating Changed from Green List (high evidence) to Red List (low evidence)

24 Jan 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CAD was added gene: CAD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CAD was set to Unknown Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy