Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CAD

No list

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 (Australian Genomics)

Green List (high evidence)

2020 series: 6/20 patients reported had ataxia relating to cerebellar atrophy, which is an expansion to the phenotype.
Sources: Literature
Created: 5 Oct 2020, 9:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 50; OMIM # 616457

Publications

Details

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

History Filter Activity

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CAD was added gene: CAD was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAD were set to 32820246 Phenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50; OMIM # 616457 Review for gene: CAD was set to GREEN