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Genetic epilepsy syndromes

Gene: CPA6

Green List (high evidence)

CPA6 (carboxypeptidase A6)
EnsemblGeneIds (GRCh38): ENSG00000165078
EnsemblGeneIds (GRCh37): ENSG00000165078
OMIM: 609562, Gene2Phenotype
CPA6 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR febrile seizures 11 (FEB11) and AD and AR familial temporal lobe epilepsy 5 (ELT5). In FEB11 - Salzmann et al, 2012 - 4 sibs born of consang Mroccan parents with highly variable manifestations of a seizure disorder. All 4 had febrile seizures and 1 laer developed temporal lobe epilepsy. Hom mutation in CPA6 - A270V. in vitro functional studies support LOF variant. ELT5 - Salzmann et al, 2012 - 3 unrelated caucasian patients with temporal lobe epilepsy - het mutation in CPA6 - G267R, In vitro functional studies support LOF variant. In one of these patients Sapio et al 2012 went on to idfentify a second het missense variant - Q207E, again expression studies support LOF. Sapio et al, 2012 - man with ETL5- seizures reported at aged 5 - het missense variant H196R no parental DNA. Functional studies were undertaken.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epilepsy, familial temporal lobe, 5,614417; Febrile seizures, familial, 11,614418

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotypes in OMIM and not in Gen2Phen. At least 4 variants identified: p.A270V as a homozygote in four siblings with Febrile seizures, familial, 11 (MIM 614418)(PMID:21922598), variant p.G267R was reported as a heterozygote in 3 unrelated cases of Epilepsy, familial temporal lobe, 5 (MIM 614417), of which one individual also carried a second CPA6 variant p.Q207E (PMID 23105115) and p.H196R was reported in a further case of Epilepsy, familial temporal lobe, 5 (MIM 614417). Supporting functional studies were also provided for variants p.A270V, p.G267R and p.H196R (PMID 23105115).
Created: 9 Apr 2018, 10:48 a.m.

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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 on list classification: Insufficient data
Created: 8 May 2016, 6:59 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial temporal lobe, 5 614417 AR, AD
  • Febrile seizures, familial, 11 614418
OMIM
609562
Clinvar variants
Variants in CPA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CPA6.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CPA6.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Richard Scott: Comment on list classification

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CPA6. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPA6 were set to Epilepsy, familial temporal lobe, 5 614417 AR, AD; Febrile seizures, familial, 11 614418

9 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CPA6 were set to 21922598; 23105115

9 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CPA6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CPA6 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CPA6 was created by Sarah Leigh