Pneumothorax - familial
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
1 review
Stefan Marciniak (University of Cambridge)
Mutated in Menkes Disease, which can lead to emphysema and pneumothorax - tenuous linkCreated: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes Disease
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Menkes Disease
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Likely inborn error of metabolism
- Inherited white matter disorders
- Cerebral vascular malformations
- Pneumothorax - familial
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Paediatric motor neuronopathies
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Hereditary neuropathy
History Filter Activity
9 Feb 2017, Gel status: 1
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
13 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Sep 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Sep 2016, Gel status: 0
Created
Stefan Marciniak (University of Cambridge)ATP7A was created by [email protected]
8 Sep 2016, Gel status: 0
Added New Source
Stefan Marciniak (University of Cambridge)ATP7A was added to Familial Pneumothoraxpanel. Sources: Expert list