Inherited white matter disorders

Gene: IBA57

Green List (high evidence)

IBA57 (IBA57 homolog, iron-sulfur cluster assembly)
EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Multiple mitochondrial dysfunctions syndrome 3, MIM#615330

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: iba57 has been classified as Green List (High Evidence).

27 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 to Multiple mitochondrial dysfunctions syndrome 3, 615330

27 Sep 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IBA57 were set to 28671726, 23462291, 25971455, 28913435, 27785568

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

IBA57 was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

IBA57 was created by Zornitza Stark