CPA6

carboxypeptidase A6
OMIM: 609562, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red CPA6 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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
Red CPA6 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Next Generation Children Project Expert list Phenotypes Epilepsy, familial temporal lobe, 5, 614417 Febrile seizures, familial, 11, 614418