Possible mitochondrial disorder - nuclear genes
Gene: MICU1
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs, 615673
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 was added gene: MICU1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673