Inherited white matter disordersGene: PRF1
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:04 p.m.
Bi-allelic variants typically associated with HLH; however, note this report describing neurodegeneration including white matter abnormalities in siblings without typical HLH features. Merits watching for further reports.
Created: 24 Jul 2018, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: prf1 has been classified as Red List (Low Evidence).
PRF1 was added to Inherited white matter disorders panel. Sources: Expert list
PRF1 was created by Zornitza Stark