Pyruvate dehydrogenase (PDH) deficiency

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: IBA57; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330

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

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: IBA57 was added gene: IBA57 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330