Only reported in two siblings
Created: 5 Jan 2017, 9:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Multiple mitochondrial dysfunctions syndrome 3 615330
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3 615330
Publications for IBA57 were set to 23462291
Mode of inheritance for IBA57 was changed to BIALLELIC, autosomal or pseudoautosomal
IBA57 was added to Arthrogryposispanel. Sources: Expert list
IBA57 was created by ellenmcdonagh