Congenital muscular dystrophy and congenital myopathy

Gene: STIM2

I don't know

no evidence for muscle involvement

Created: 6 Mar 2017, 12:14 p.m.

Red List (low evidence)

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