Congenital muscular dystrophy and congenital myopathy
Gene: MICU1EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 9 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
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
Helen Brittain (Genomics England Curator)
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
- PMID 24336167
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy with extrapyramidal signs, OMIM:615673
- OMIM
- 605084
- Clinvar variants
- Variants in MICU1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: MICU1 was added gene: MICU1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MICU1 were set to 24336167 Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, OMIM:615673 Penetrance for gene: MICU1 were set to Complete