Congenital myopathy
Gene: ISCU
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with lactic acidosis, hereditary, 255125
Publications
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
Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary, 255125 to Myopathy with lactic acidosis, hereditary, OMIM:255125
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 Red List (Low Evidence).
Publications for ISCU were set to 18296749
Mode of inheritance for ISCU was changed to BIALLELIC, autosomal or pseudoautosomal
ISCU was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen