KCNMA1

potassium calcium-activated channel subfamily M alpha 1
OMIM: 600150, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green KCNMA1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Liang-Wang syndrome, MIM# 618729
Green KCNMA1 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 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Green KCNMA1 in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Liang-Wang syndrome, MIM# 618729
Green KCNMA1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Liang-Wang syndrome, MIM# 618729
Green KCNMA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446
Green KCNMA1 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Green KCNMA1 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446