Congenital myopathy
Gene: MICU1
this gene is in the muscular dystrophy panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with extrapyramidal signs, 615673 (3)
Publications
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
Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 to Myopathy with extrapyramidal signs, OMIM:615673
Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, 615673
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.
This gene has been classified as Green List (High Evidence).
Publications for MICU1 were set to 24336167
Mode of inheritance for MICU1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MICU1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen