1. Genes and Genomic Entities
  2. CPA6

CPA6

carboxypeptidase A6
OMIM: 609562, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red CPA6 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Epilepsy, familial temporal lobe, 5 614417 AR, AD
    • Febrile seizures, familial, 11 614418
    Tags
    • refuted
    Red CPA6 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Epilepsy, familial temporal lobe, 5
    Tags
    • refuted