Inherited white matter disorders
Gene: IBA57EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 15 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 GreenCreated: 27 Sep 2018, 4:16 p.m.
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
- OMIM
- 615316
- Clinvar variants
- Variants in IBA57
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: iba57 has been classified as Green List (High Evidence).
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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: IBA57 were set to 28671726, 23462291, 25971455, 28913435, 27785568
Added New Source
Zornitza Stark (Australian Genomics)IBA57 was added to Inherited white matter disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)IBA57 was created by Zornitza Stark