CACNA1A

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green CACNA1A 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 Green Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 1, MIM# 141500
Green CACNA1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 2.0	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 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 42, MIM# 617106
Green CACNA1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2 MIM#108500
Green CACNA1A in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	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 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes developmental and epileptic encephalopathy, 42 MONDO:0014917
Green CACNA1A 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 CACNA1A in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	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 and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	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 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 2
Green CACNA1A in Congenital nystagmus Level 2: Ophthalmological disorders Version 2.0	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 2.0	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 2.0	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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	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
Green CACNA1A_SCA6_CAG STR in Repeat Disorders Version 1.0	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