Paediatric motor neuronopathies
Gene: ATP7AEnsemblGeneIds (GRCh38): ENSG00000165240
EnsemblGeneIds (GRCh37): ENSG00000165240
OMIM: 300011, Gene2Phenotype
ATP7A is in 20 panels
2 reviews
Pinki Munot (Consultant )
2 large families reported with this phenotype
more common phenotype is Menkes diseaseCreated: 2 Mar 2017, 7:11 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
distal motor neuronopathy
Publications
Alice Gardham (Genomics England)
Comment on list classification: Only reported in two families with distal SMACreated: 26 Jan 2017, 11:17 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Menkes disease, OMIM:309400
- Occipital horn syndrome, OMIM:304150
- Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
- OMIM
- 300011
- Clinvar variants
- Variants in ATP7A
- Penetrance
- Complete
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Paediatric motor neuronopathies
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- DDG2P
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection (GMS)
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Thoracic aortic aneurysm or dissection
- Rare genetic inflammatory skin disorders
- Pneumothorax - familial
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ATP7A were changed from Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease, OMIM:309400; Occipital horn syndrome, OMIM:304150; Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ATP7A was added to Paediatric motor neuronopathiespanel. Sources: Expert
Added New Source
Antonio Rueda (GEL)ATP7A was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen