Mitochondrial disorders
Gene: MICU1

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Created: 16 Apr 2019, 3:06 p.m.

Panel version: 1.176

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 30 Aug 2018, 7:56 a.m.

Panel version: 1.67

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myopathy with extrapyramidal signs 615673

Tags

founder-effect

OMIM

605084

Clinvar variants

Variants in MICU1

Penetrance

None

Publications

Panels with this gene