This Panel is marked as Retired
Genetic Epilepsies with Febrile Seizures Plus (GEFS+)
Gene: CPA6
CPA6 (carboxypeptidase A6)
EnsemblGeneIds (GRCh38): ENSG00000165078
EnsemblGeneIds (GRCh37): ENSG00000165078
OMIM: 609562, Gene2Phenotype
CPA6 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000165078
EnsemblGeneIds (GRCh37): ENSG00000165078
OMIM: 609562, Gene2Phenotype
CPA6 is in 2 panels
2 reviews
Rebecca Foulger (Genomics England curator)
In 4 sibs, born of consanguineous Moroccan parents, with febrile seizures-11 (MIM:614418), Salzmann et al. (2012, PMID:21922598) identified a homozygous 809C-T transition in exon 8 of the CPA6 gene resulting in a A270V substitution.
In 1 of the patients originally reported by Salzmann as having a heterozygous G267R mutation in CPA6, Sapio et al 2012 (PMID:23105115) identified a second heterozygous missense mutation (Q207E) in CPA6- this patient is associated with famililal temporal lobe epilepsy-5 (MIM:614417) in OMIM.Created: 11 May 2017, 1:12 p.m.
Richard Scott (Genomics England Curator)
Comment when marking as ready: Insufficient dataCreated: 8 May 2016, 6:56 p.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Febrile seizures, familial, 11
- Epilepsy, familial temporal lobe, 5
- OMIM
- 609562
- Clinvar variants
- Variants in CPA6
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
8 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 May 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CPA6 was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Radboud University Medical Center, Nijmegen