This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
Gene: ATP7A
ATP7A (ATPase copper transporting alpha)
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 19 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
- Intellectual disability
- Pneumothorax - familial
- Paediatric motor neuronopathies
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Thoracic aortic aneurysm or dissection
- White matter disorders and cerebral calcification - narrow panel
- Skeletal dysplasia
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Rare genetic inflammatory skin disorders
- Fetal anomalies
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ATP7A was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ATP7A was created by Sarah Leigh