Inherited white matter disordersGene: PPT1
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:04 p.m.
White matter abnormalities are part of the phenotype.
Created: 24 Jul 2018, 6:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Variants in this GENE are reported as part of current diagnostic practice
Gene: ppt1 has been classified as Red List (Low Evidence).
PPT1 was added to Inherited white matter disorders panel. Sources: Expert list
PPT1 was created by Zornitza Stark