Inherited white matter disordersGene: HMBS
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.
Please note that while heterozygous variants in this gene cause acute intermittent porphyria, bi-allelic variants can cause paediatric onset leukoencephalopathy. Consider Amber if not Green.
Created: 24 Jul 2018, 1:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: hmbs has been classified as Red List (Low Evidence).
HMBS was added to Inherited white matter disorders panel. Sources: Expert list
HMBS was created by Zornitza Stark