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Inborn errors of metabolism

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 8:34 a.m.
Comment on list classification: Carl Fratter also suggests this should be green therefore promoted from red to green.
Created: 15 Mar 2016, 8:33 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive for gene: IBA57 Publications for gene IBA57 were changed from PMID: 23462291; 25971455 to 23462291; 25971455

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: IBA57 was added gene: IBA57 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IBA57 were set to PMID: 23462291; 25971455 Phenotypes for gene: IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive