Mitochondrial disorders
Gene: IBA57Comment 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.
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
Victorian Clinical Genetics Services was added to IBA57. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for IBA57 were set to ?Multiple mitochondrial dysfunctions syndrome 3, 615330; ?Spastic paraplegia 74, autosomal recessive
Publications for IBA57 were set to PMID: 23462291; 25971455
Mode of inheritance for IBA57 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
IBA57 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
IBA57 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen