ATP1A2

Green ATP1A2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46

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 1.64

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 1.80

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 1.147

Sources

• Emory Genetics Laboratory

Phenotypes

• Dystonia
• migraine

Green ATP1A2 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17

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 4.26
Latest signed off version: v4.0 (22 Mar 2023)

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 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 5.31
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert Review Green
• Literature

Phenotypes

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

Red ATP1A2 in Skeletal muscle channelopathy

Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• NHS GMS
• London North GLH

Phenotypes

• hypokalaemic periodic paralysis MONDO:0008223

Green ATP1A2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

• hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Red ATP1A2 in Adult onset neurodegenerative disorder

Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

• hydrops fetalis
• microcephaly
• arthrogryposis
• extensive cortical malformations

Green ATP1A2 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ATP1A2-related epileptic encephalopathy
• MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related
• Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy

Red ATP1A2 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Radboud University Medical Center, Nijmegen

Phenotypes

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

Green ATP1A2 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

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 with onset in adulthood

Version 4.34
Latest signed off version: v4.0 (22 Mar 2023)

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 dystonia, chorea or related movement disorder

Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

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, chorea or related movement disorder

Version 3.78
Latest signed off version: v3.0 (22 Mar 2023)

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 1.184

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