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Molecular autopsy

Gene: MICU1

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • myopathy with extrapyramidal signs
OMIM
605084
Clinvar variants
Variants in MICU1
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MICU1 was added gene: MICU1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MICU1 were set to myopathy with extrapyramidal signs