Alternating Hemiplegia and Hemiplegic Migraine (Version 0.57)

Description

This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.

Please also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.

Panel Activity

5 reviewers

Hazel Phillimore (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

18 Entities

18 reviewed, 12 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 18 Entitiess
Green Green List (high evidence)	ATP1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 1, MIM# 104290 Tags
Green Green List (high evidence)	ATP1A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 2, MIM# 614820 Tags
Green Green List (high evidence)	CACNA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 1, MIM# 141500 Tags
Green Green List (high evidence)	CST3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes leukodystrophy MONDO:0019046, CST3-related Tags
Green Green List (high evidence)	KCNK18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Migraine, with or without aura, susceptibility to, 13}, MIM# 613656 Tags
Green Green List (high evidence)	PRRT2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Episodic kinesigenic dyskinesia 1, 128200 Seizures, benign familial infantile, 2, 605751 Tags
Green Green List (high evidence)	RHOBTB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 64 618004 Alternating hemiplegia Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 3, MIM# 609634 Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related Tags
Green Green List (high evidence)	SLC1A3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hemiplegic migraine Tags
Green Green List (high evidence)	SLC2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hemiplegic migraine Tags
Green Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278 hemiplegic migraine Tags
Amber Amber List (moderate evidence)	CACNB4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 5, MIM#613855 Tags
Amber Amber List (moderate evidence)	CLDN5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes alternating hemiplegia, MONDO:0016210, CLDN5-related Tags
Amber Amber List (moderate evidence)	KCNA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Episodic ataxia/myokymia syndrome, MIM# 160120 Tags
Amber Amber List (moderate evidence)	NOTCH3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Tags
Red Red List (low evidence)	ATP1A4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hemiplegic migraine Tags
Red Red List (low evidence)	PNKD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 Tags

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