Inherited white matter disordersGene: HTRA1
11 unrelated individuals described in the literature with heterozygous variants in this gene; later-onset leukoencephalopathy.
Created: 24 Jul 2018, 2:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM#616779
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
HTRA1 was created by ellenmcdonagh
HTRA1 was added to Inherited white matter disorderspanel. Sources: UKGTN