Paediatric motor neuronopathies
Gene: ATP7A
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
Comment on list classification: Only reported in two families with distal SMACreated: 26 Jan 2017, 11:17 a.m.
Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ATP7A was added to Paediatric motor neuronopathiespanel. Sources: Expert
ATP7A was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen