Arthrogryposis
Gene: IBA57EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 15 panels
1 review
Alice Gardham (Genomics England)
Only reported in two siblingsCreated: 5 Jan 2017, 9:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 3 615330
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
- OMIM
- 615316
- Clinvar variants
- Variants in IBA57
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3 615330 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3 615330
Set publications
Alice Gardham (Genomics England)Publications for IBA57 were set to 23462291
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for IBA57 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)IBA57 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)IBA57 was created by ellenmcdonagh