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Intellectual disability update Jan 2018

Gene: CPA6

Red List (low evidence)
CPA6 (carboxypeptidase A6)
EnsemblGeneIds (GRCh38): ENSG00000165078
EnsemblGeneIds (GRCh37): ENSG00000165078
OMIM: 609562, Gene2Phenotype
CPA6 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Intellectual disability not listed as a feature of the phenotypes (Epilepsy, familial temporal lobe, 5 614417 AD, AR and Febrile seizures, familial, 11 614418) associated with variants in this gene.
Created: 2 Jan 2018, 4:08 p.m.
Created: 2 Jan 2018, 4:08 p.m.

Panel version: 0.18

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Epilepsy, familial temporal lobe, 5 614417 AD, AR
  • Febrile seizures, familial, 11 614418
OMIM
609562
Clinvar variants
Variants in CPA6
Penetrance
None
Panels with this gene

History Filter Activity

2 Jan 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

2 Jan 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

2 Jan 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CPA6 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber

18 Dec 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

CPA6 was created by Ellen McDonagh