CPA6

carboxypeptidase A6
OMIM: 609562, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red CPA6 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services 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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship 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 0.6063	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
Red CPA6 in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red GREP Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, familial temporal lobe, 5 614417 AR, AD Febrile seizures, familial, 11 614418