Inherited white matter disordersGene: NOTCH3
Over a hundred patients reported with heterozygous variants in this gene. White matter changes are part of the phenotype.
Created: 24 Jul 2018, 5:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#600276
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.
NOTCH3 was added to Inherited white matter disorderspanel. Sources: UKGTN
NOTCH3 was created by ellenmcdonagh