CACNA1A

calcium voltage-gated channel subunit alpha1 A
OMIM: 601011, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green CACNA1A in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.61	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 1, MIM# 141500
Green CACNA1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Spinocerebellar ataxia 6, MIM# 183086
Green CACNA1A in Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.5 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A in Mendeliome Version 1.3512	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 2 MIM#108500
Green CACNA1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 42, MIM# 617106
Green CACNA1A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CACNA1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes developmental and epileptic encephalopathy, 42 MONDO:0014917
Green CACNA1A in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.144 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	0 reviews	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services
Green CACNA1A in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.59 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 6 familial hemiplegic migraine type 1, 141500 Familial hemiplegic migraine 1, 141500 SCA6, 183086 episodic ataxia type 2 (EA2),108500 Episodic ataxia type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Episodic ataxia, type 2 Tags STR
Green CACNA1A in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.288 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Spinocerebellar ataxia 6 MIM#183086
Green CACNA1A in Episodic Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.1 Component of the following Super Panels: Ataxia_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Episodic ataxia, type 2
Green CACNA1A in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Expert list Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086
Red CACNA1A in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Phenotypes Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Migraine, familial hemiplegic, 1, MIM# 141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500 Spinocerebellar ataxia 6, MIM# 183086
Red CACNA1A in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Episodic ataxia, type 2, MIM# 108500
Green CACNA1A_SCA6_CAG STR in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.59 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags STR
Green CACNA1A_SCA6_CAG STR in Repeat Disorders Version 0.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags adult-onset