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Inborn errors of metabolism

Gene: MICU1

Green List (high evidence)

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 10 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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with extrapyramidal signs 615673
OMIM
605084
Clinvar variants
Variants in MICU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to MICU1. Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1 Publications for gene MICU1 were changed from to 24336167; 29721912 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MICU1 was added gene: MICU1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MICU1 was set to Unknown