Inherited white matter disordersGene: HSPD1
Single large consanguineous family reported in the literature with multiple affected individuals, functional data.
Created: 24 Jul 2018, 2:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy, hypomyelinating, 4 (MIM#612233)
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.
HSPD1 was created by ellenmcdonagh
HSPD1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen