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  3. CAD
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Nucleotide metabolism disorders

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five individuals from four unrelated families reported, seizures are a prominent part of the phenotype of this progressive neurometabolic condition.
Sources: Expert list
Created: 2 Jan 2020, 11:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 50, MIM# 616457

Publications

Created: 2 Jan 2020, 11:21 p.m.

Panel version: Imported from Mendeliome panel version 0.549

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 50, MIM# 616457
OMIM
114010
Clinvar variants
Variants in CAD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CAD was added gene: CAD was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAD were set to 25678555; 29884839; 28007989 Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# 616457