CPA6

carboxypeptidase A6
OMIM: 609562, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CPA6 in Mendeliome


Version 1.3795

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Epilepsy, familial temporal lobe, 5, MIM#614417
  • Febrile seizures, familial, 11, MIM#614418
Tags
  • refuted
  • disputed

Red CPA6 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.307

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • Epilepsy, familial temporal lobe, 5, MIM#614417
    • Febrile seizures, familial, 11, MIM#614418
    Tags
    • refuted
    • disputed

    Red CPA6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Epilepsy, familial temporal lobe, 5, MIM#614417
    • Febrile seizures, familial, 11, MIM#614418
    Tags
    • refuted