Congenital myopathy
Gene: ISCUEnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, 255125
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Although 9 families reported with the phenotype with genetic confirmation, genealogical mapping has been able to link them to a common ancestor. This phenotype appears to be relevant to Swedish populations therefore. Not widely reported and not of congenital onset (childhood mainly with lactic acidosis), therefore considered red for this panel.Created: 3 Feb 2017, 12:04 p.m.
Although 9 families reported with the phenotype with genetic confirmation, genealogical mapping has been able to link them to a common ancestor. This phenotype appears to be relevant to Swedish populations therefore. Not widely reported and not of congenital onset (childhood mainly with lactic acidosis), therefore considered red for this panel.Created: 31 Jan 2017, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary 255125
Publications
- PMID 18296749
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy with lactic acidosis, hereditary, OMIM:255125
- OMIM
- 611911
- Clinvar variants
- Variants in ISCU
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Arthrogryposis
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for ISCU were set to 18296749
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for ISCU was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
GEL ()ISCU was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen