Early onset or syndromic epilepsy

Gene: ATP7A

I don't know

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

Green List (high evidence)

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

• 7842019
• 21924848

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.

Green List (high evidence)

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