Inherited white matter disordersGene: OCRL
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.
White matter abnormalities are a recognised feature of Lowe syndrome.
Created: 24 Jul 2018, 5:23 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Lowe syndrome, MIM#309000
Variants in this GENE are reported as part of current diagnostic practice
Gene: ocrl has been classified as Red List (Low Evidence).
OCRL was added to Inherited white matter disorders panel. Sources: Expert list
OCRL was created by Zornitza Stark