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Arthrogryposis

Gene: IBA57

Red List (low evidence)

IBA57 (IBA57 homolog, iron-sulfur cluster assembly)
EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 15 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in two siblings
Created: 5 Jan 2017, 9:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 3 615330

Publications

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3 615330

5 Jan 2017, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for IBA57 were set to 23462291

5 Jan 2017, Gel status: 0

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for IBA57 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IBA57 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IBA57 was created by ellenmcdonagh