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  3. IBA57
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Fetal anomalies

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 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 15 panels, inc. severe paediatric disorders, IEM, arthrogryposis. Associated with ?Spastic paraplegia 74 (AR) and Multiple mitochondrial dysfunctions syndrome 3 (AR). MMDS3 in OMIM: 'onset in utero death may occur in infancy of early childhood'. Bolar et al., 2013 PMID 23462291: 2 siblings of consanguinous parents. Prenatal ultrasound: IURG, polyhydramnios, microcephaly and enlarged cerebral ventricle system. Px 1: additional symptoms postnatal (retrognathia, high palate, widely spaced nipples, arthrogryposis, encehalopathy, cerebral anomalies on MRI). Died 6do. Px 2 additional symptoms postnatal: severe hypotonia, apnea and arthrogryposis. c.941A>C p.(Gln314Pro) hom. Sato et al., 2021 PMID 33890810: 24wk gestation: foetal growth restriction. 28wk gestation: dilated ventricles observed on foetal brain sonography. 34wks gestation: few brain cysts with dilated lateral ventricles. Born at 37+3weeks -> NICU due to hypotonia. Died 30do. Conclusion: link to prenatal phenotypes (IUGR, polyhydramnios, microcephaly, enlarged cerebral ventricle system, brain cysts). Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: IBA57. Tag Q2_23_NHS_review was removed from gene: IBA57.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to IBA57. Source NHS GMS was added to IBA57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: IBA57 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: IBA57. Tag Q2_23_NHS_review tag was added to gene: IBA57.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: IBA57 was added gene: IBA57 was added to Fetal anomalies. Sources: Expert Review Amber 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, OMIM:615330