Early onset or syndromic epilepsy
Gene: ATP7A
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
XLR Menkes syndrome - classic form typically presents in aff males shortly after birth and this severe clinical course is lethal in early childhood. Milder forms do exist - linked to residual activity of the protein. Progressive neurodegen, marked conective tissue abnormal and sparse steely hair. No mention in papers of seizures being a feature - Tumer, 2013, Moller et al, 2005, Skorringe et al, 2011, de Gemmis et al, 2017. Bahl-Buisson et al, 2006 and Prasad et al, 2011 - state epilepsy to be one of the major features of Menke disease.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease, 309400; Occipital horn syndrome, 304150; Spinal muscular atrophy, distal, 300489
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases of Menkes disease 309400 with seizures.Created: 12 Nov 2018, 1:50 p.m.
Seizures are a well recognised feature.Created: 7 Aug 2018, 9:51 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Menkes disease, MIM#309400
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to ATP7A.
Source NHS GMS was added to ATP7A.
Zornitza Stark: Seizures are a well recognised
Gene: atp7a has been classified as Green List (High Evidence).
Gene: atp7a has been classified as Green List (High Evidence).
Publications for gene: ATP7A were set to
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 to Menkes disease 309400
Expert Review Amber was added to ATP7A. Panel: Genetic Epilepsy Syndromes
ATP7A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ATP7A was created by Sarah Leigh