Congenital myopathy
Gene: STIM2
no evidence for muscle involvementCreated: 6 Mar 2017, 12:14 p.m.
Comment when marking as ready: No clear mutations in humans associated with disease. Further evidence needed for inclusion.Created: 22 Feb 2017, 11:15 a.m.
Comment on list classification: In view of presence on UKGTN congenital myopathy list I re-evaluated the evidence and discussed with Arianna Tucci. Although there is a mechanism (interaction with STIM1) whereby this could be a relevant gene there is no evidence of mutation in humans in the medical reports at present and therefore not for inclusion on the current basis. Await further evidence.Created: 22 Feb 2017, 11:14 a.m.
Comment when marking as ready: No OMIM phenotype. Reports of interaction with STIM2, which causes tubular aggregate myopathy in humans but no current evidence of STIM1 causing disease.Created: 3 Feb 2017, 2:02 p.m.
No OMIM phenotype attributed. I cannot find a clear causal link from the evidence at present.Created: 31 Jan 2017, 2:42 p.m.
Mode of inheritance
Unknown
Mode of inheritance for gene: STIM2 was changed from to Unknown
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).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
STIM2 was added to Congenital myopathypanel. Sources: UKGTN