KCNA1

potassium voltage-gated channel subfamily A member 1
OMIM: 176260, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red KCNA1 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.3	review	Not set	Sources Literature
Green KCNA1 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.46	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Episodic ataxia/myokymia syndrome, 160120 Episodic Ataxia Myokymia Episodic Ataxia, Type 1 EA1
Green KCNA1 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Tags treatable
Green KCNA1 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Episodic ataxia/myokymia syndrome,
Green KCNA1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Episodic ataxia/myokymia syndrome,
Green KCNA1 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Episodic Ataxia EPISODIC ATAXIA, TYPE 1 Episodic ataxia/myokymia syndrome, 160120 EA1 Myokymia myokymia with periodic ataxia Episodic Ataxia, Type 1
Green KCNA1 in Skeletal muscle channelopathy Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green London North GLH Phenotypes Episodic ataxia type 1/myokymia syndrome OMIM:160120
Red KCNA1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, EPISODIC ATAXIA, TYPE 1 Tags treatable
Red KCNA1 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes KCNA1-related epileptic encephalopathy, biallelic KCNA1-related epileptic encephalopathy, monoallelic
Red KCNA1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies
Red KCNA1 in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	Not set	Sources NHS GMS Phenotypes Autosomal dominant hypomagnesemia Episodic ataxia/myokymia syndrome,160120
Amber KCNA1 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber North West GLH Wessex and West Midlands GLH NHS GMS Expert Phenotypes Episodic ataxia/ myokymia syndrome, OMIM:160120 epilepsy, MONDO:0005027 Tags Q1_24_promote_green Q1_24_NHS_review
Amber KCNA1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Episodic ataxia/myokymia syndrome, OMIM:160120
Green KCNA1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes myokymia with periodic ataxia Episodic ataxia/myokymia syndrome EPISODIC ATAXIA, TYPE 1 Episodic ataxia/myokymia syndrome, 160120 Tags treatable
Red KCNA1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia
Red KCNA1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Hereditary Neuropathies
Green KCNA1 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia
Green KCNA1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Episodic ataxia/myokymia syndrome, 160120