Inherited white matter disordersGene: ATP7A
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:01 p.m.
White matter changes are a well-described feature of this metabolic disorder.
Created: 7 Sep 2018, 7:16 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Menkes disease, MIM#309400
Variants in this GENE are reported as part of current diagnostic practice
Gene: atp7a has been classified as Red List (Low Evidence).
ATP7A was added to Inherited white matter disorders panel. Sources: Expert list
ATP7A was created by Zornitza Stark