This Panel is marked as Retired
Epileptic encephalopathy
Gene: ATP1A2
ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Severe microcephaly
- Fetal anomalies
- Hereditary ataxia with onset in adulthood
- Skeletal muscle channelopathy
- Fetal hydrops
- Paroxysmal central nervous system disorders
- Monogenic hearing loss
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Malformations of cortical development
History Filter Activity
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ATP1A2 was added to Epileptic encephalopathypanel. Sources: Expert