Congenital myopathy

Gene: ISCU

Red List (low evidence)

ISCU (iron-sulfur cluster assembly enzyme)
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 11 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with lactic acidosis, hereditary, 255125

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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

Details

History Filter Activity

22 Feb 2017, Gel status: 1

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: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for ISCU were set to 18296749

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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