Congenital myopathy

Gene: MICU1

Green List (high evidence)

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 11 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

this gene is in the muscular dystrophy panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs, 615673 (3)

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: 7 families reported in above PMID. Although age of onset does not appear to be congenital, the earliest cases to display a muscle phenotype were within the first year of life. The muscle biopsies are consistent with the inclusion criteria and, as the extrapyramidal signs did not appear until later, I could see that in the early phase, cases may be considered as an early onset myopathy. Therefore considered green. Diagnostic testing in someone with a myopathic phenotype.
Created: 3 Feb 2017, 12:12 p.m.
Comment on list classification: 7 families reported in above PMID. Although age of onset does not appear to be congenital, the earliest cases to display a muscle phenotype were within the first year of life. The muscle biopsies are consistent with the inclusion criteria and, as the extrapyramidal signs did not appear until later, I could see that in the early phase, cases may be considered as an early onset myopathy. Therefore considered green.
Created: 3 Feb 2017, 12:12 p.m.
7 families reported in above PMID. Although age of onset does not appear to be congenital, the earliest cases to display a muscle phenotype were within the first year of life. The muscle biopsies are consistent with the inclusion criteria and, as the extrapyramidal signs did not appear until later, I could see that in the early phase, cases may be considered as an early onset myopathy. Therefore considered green.
Created: 31 Jan 2017, 10:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs 615673

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
OMIM
605084
Clinvar variants
Variants in MICU1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, 615673

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for MICU1 were set to 24336167

3 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for MICU1 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MICU1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen