Inherited white matter disordersGene: IBA57
Comment on list classification: New gene added by external expert Zornitza Stark (Australian Genomics) and recommended by Ian Berry (NHS Leeds Genetics Laboratory) and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Created: 27 Sep 2018, 4:16 p.m.
Over 20 individuals reported with bi-allelic variants in this gene, a diffuse leukoencephalopathy is part of the phenotype.
Created: 24 Jul 2018, 2:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Multiple mitochondrial dysfunctions syndrome 3, MIM#615330
Variants in this GENE are reported as part of current diagnostic practice
Gene: iba57 has been classified as Green List (High Evidence).
Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 to Multiple mitochondrial dysfunctions syndrome 3, 615330
Publications for gene: IBA57 were set to 28671726, 23462291, 25971455, 28913435, 27785568
IBA57 was added to Inherited white matter disorders panel. Sources: Expert list
IBA57 was created by Zornitza Stark