Mitochondrial disorders
Gene: MICU1Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in numerous cases.Created: 16 Apr 2019, 3:06 p.m.
15 patients from 7 families initially reported in the literature with bi-allelic mutations in this gene, which is involved in mitochondrial calcium homeostasis; further 13 patients reported recently. Note three recurrent mutations described (founder effect in Arab, Dutch and Pakistani populations).Created: 30 Aug 2018, 7:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs, MIM#615673
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: micu1 has been classified as Green List (High Evidence).
Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs 615673
Publications for gene: MICU1 were set to
Mode of inheritance for gene: MICU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag founder-effect tag was added to gene: MICU1.
MICU1 was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
MICU1 was created by Sarah Leigh