ATP1A2

Green ATP1A2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.45

Sources

• Expert Review Green
• Expert list

Phenotypes

• Migraine, familial hemiplegic, 2, 602481
• Alternating hemiplegia of childhood 1, 104290
• Hypokalaemic periodic paralysis

Amber ATP1A2 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.55

Sources

• Expert Review Amber
• Expert list

Phenotypes

• hydrops fetalis
• microcephaly
• arthrogryposis
• extensive cortical malformations

Green ATP1A2 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.79

Sources

• Expert Review Green
• UKGTN

Phenotypes

• familial hemiplegic migraine type 2, 602481
• familial basilar migraine 602481
• alternating hemiplegia of childhood 104290

Tags

• treatable

Red ATP1A2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.117

Sources

• Emory Genetics Laboratory

Phenotypes

• Dystonia
• migraine

Green ATP1A2 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.13

Sources

• Expert list
• Expert Review Green
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Literature

Phenotypes

• Cerebral small vessel disease
• coma
• encephalopathy
• Migraine, familial basilar 602481
• Migraine, familial hemiplegic, 2 602481

Green ATP1A2 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list

Phenotypes

• hydrops fetalis
• microcephaly
• arthrogryposis
• extensive cortical malformations

Green ATP1A2 in Paroxysmal central nervous system disorders

Version 1.44
Latest signed off version: v1.2 (27 Feb 2020)

Sources

• Expert Review Green
• NHS GMS
• London North GLH
• Wessex and West Midlands GLH

Phenotypes

• Migraine, familial hemiplegic, 2, 602481
• Migraine, familial basilar, 602481
• alternating hemiplegia of childhood 104290

Green ATP1A2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

Sources

• Expert Review Green
• Literature

Phenotypes

• arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency

Green ATP1A2 in Skeletal muscle channelopathy

Version 1.39
Latest signed off version: v1.2 (2 Mar 2020)

Sources

• Expert Review Green
• NHS GMS
• London North GLH

Phenotypes

• hypokalaemic periodic paralysis MONDO:0008223

Tags

• Q2_21_phenotype

Green ATP1A2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

Sources

• Expert Review Green
• Expert list

Phenotypes

• hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Red ATP1A2 in Neurodegenerative disorders - adult onset

Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

Sources

• Expert Review Red
• Wessex and West Midlands GLH
• Yorkshire and North East GLH
• NHS GMS
• London North GLH

Phenotypes

• Dystonia
• alternating hemiplegia of childhood 104290
• familial basilar migraine 602481
• migraine
• familial hemiplegic migraine type 2, 602481

Tags

• treatable

Green ATP1A2 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Green
• Expert list

Phenotypes

• hydrops fetalis
• microcephaly
• arthrogryposis
• extensive cortical malformations

Red ATP1A2 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.247
Latest signed off version: v2.5 (13 Feb 2020)

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

• Alternating hemiplegia of childhood, 104290Migraine, familial basilar, 602481Migraine, familial hemiplegic, 2, 602481

Green ATP1A2 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Expert Review Green
• Wessex and West Midlands GLH
• NHS GMS
• Expert

Phenotypes

• Alternating hemiplegia of childhood 1, 104290
• Migraine, familial basilar, 602481
• Migraine, familial hemiplegic, 2, 602481
• benign familial infantile convulsions
• epilepsy and migraine
• occipitotemporal epilepsy
• infantile epileptic syndrome

Green ATP1A2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Migraine, familial hemiplegic, 2 602481
• Alternating hemiplegia of childhood 1, 104290

Green ATP1A2 in Hereditary ataxia - adult onset

Version 2.158
Latest signed off version: v2.13 (6 Oct 2020)

Sources

• London North GLH
• NHS GMS
• Wessex and West Midlands GLH
• Expert Review Green
• Brain channelopathy v1.46

Phenotypes

• Alternating hemiplegia of childhood 1, 104290
• Familial hemiplegic migraine 2, 602481

Tags

• treatable

Green ATP1A2 in Adult onset movement disorder

Version 1.170
Latest signed off version: v1.121 (5 Aug 2021)

Sources

• NHS GMS
• London North GLH
• Expert Review Green

Phenotypes

• familial basilar migraine OMIM:602481
• familial hemiplegic migraine type 2 OMIM:602481
• migraine, familial hemiplegic, 2 MONDO:0011232
• alternating hemiplegia of childhood OMIM:104290
• alternating hemiplegia of childhood 1 MONDO:0007087

Green ATP1A2 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• PanelApp
• Expert Review Green
• London North GLH

Phenotypes

• familial basilar migraine 602481
• familial hemiplegic migraine type 2, 602481
• alternating hemiplegia of childhood 104290
• Dystonia
• migraine

Green ATP1A2 in Severe Paediatric Disorders

Version 1.127

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Alternating hemiplegia of childhood 1, 104290
• Migraine, familial basilar, 602481
• Migraine, familial hemiplegic, 2, 602481