Mitochondrial disorders
Gene: IBA57EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 15 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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
- ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
- OMIM
- 615316
- Clinvar variants
- Variants in IBA57
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Intellectual disability
- 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
- Childhood onset hereditary spastic paraplegia
- 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; ?Spastic paraplegia 74, autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; ?Spastic paraplegia 74, autosomal recessive, OMIM:616451
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to IBA57. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IBA57 were set to PMID: 23462291; 25971455
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IBA57 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)IBA57 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)IBA57 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen