KCNA1

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber KCNA1 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia/myokymia syndrome, MIM# 160120

Green KCNA1 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia/myokymia syndrome, MIM# 160120

Green KCNA1 in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia/myokymia syndrome, MIM# 160120
  • Epilepsy, MONDO:0005027, KCNA1-related

Green KCNA1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy
  • seizures
  • epileptic encephalopathies
  • episodic ataxia type 1 and epilepsy

Green KCNA1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KCNA1 in Paroxysmal Dyskinesia


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Royal Children's Hospital Neurology Department
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green KCNA1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
  • Episodic ataxia/myokymia syndrome, 160120
  • Episodic ataxia/myokymia syndrome

Green KCNA1 in Skeletal Muscle Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • EA1
  • Episodic ataxia/myokymia syndrome, 160120
  • Myokymia
  • Episodic Ataxia
  • Episodic Ataxia, Type 1

Green KCNA1 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Episodic ataxia type 1

Red KCNA1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Episodic ataxia/myokymia syndrome, MIM# 160120

Green KCNA1 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Epilepsy, MONDO:0005027, KCNA1-related
  • Episodic ataxia/myokymia syndrome, MIM# 160120