Inherited white matter disordersGene: ACBD5
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1 p.m.
Two unrelated families reported in the literature, plus functional evidence. Another variant in ClinVar. Consider Amber if not Green.
Created: 23 Jul 2018, 6:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: acbd5 has been classified as Red List (Low Evidence).
ACBD5 was added to Inherited white matter disorders panel. Sources: Literature
ACBD5 was created by Zornitza Stark