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Intellectual disability

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

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by external expert 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, 4:47 p.m.
New gene suggested by external expert 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, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 3, 615330; intellectual disability, seizures, loss of milestones

Publications

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: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: IBA57 was added gene: IBA57 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to 28671726; 23462291; 25971455; 28913435; 27785568 Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330; intellectual disability, seizures, loss of milestones Review for gene: IBA57 was set to GREEN