Ataxia and cerebellar anomalies - narrow panel
Gene: CAD
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Comment on list classification: New gene added by Zornitza Stark. There are sufficient cases with ataxia and biallelic variants in this gene to rate as Green on this panel, but note that not all cases present this feature (ataxia reported in 8/18 individuals to date - PMID: 32820246)Created: 11 May 2021, 1:57 p.m. | Last Modified: 11 May 2021, 1:57 p.m.
Panel Version: 2.166
2020 series: 6/20 patients reported had ataxia relating to cerebellar atrophy, which is an expansion to the phenotype.
Sources: LiteratureCreated: 5 Oct 2020, 9:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 50; OMIM # 616457
Publications
Tag Q2_21_rating was removed from gene: CAD.
Source Expert Review Green was added to CAD. Source NHS GMS was added to CAD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: CAD were set to 32820246
Gene: cad has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: CAD.
Phenotypes for gene: CAD were changed from Epileptic encephalopathy, early infantile, 50; OMIM # 616457 to Developmental and epileptic encephalopathy 50, OMIM:616457
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