Congenital myopathy

Gene: STAC3

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.

Created: 30 Apr 2019, 10:09 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, Baily-Bloch, 255995

Publications

• 23736855
• 28003463

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Native American myopathy, 255995 (3)

Publications

• 23736855
• 28003463

Red List (low evidence)

Comment when marking as ready: Sufficient evidence, may not be widely applicable in terms of founder effect but appropriate for inclusion.

Created: 7 Mar 2017, 2:46 p.m.

Comment on list classification: Although current evidence is of relevance to one specific population, there is sufficient evidence of a relevant phenotype and therefore consider green in light of expert opinion.

Created: 7 Mar 2017, 2:45 p.m.

Comment when marking as ready: Insufficient evidence. Single mutation identified in native American families

Created: 3 Feb 2017, 1:58 p.m.

Comment on list classification: Only reported cases are with a single mutation in Native Americans. Unless further evidence obtained considered red.

Created: 3 Feb 2017, 1:57 p.m.

5 families affected with Native American myopathy identified to have the same mutation. No other cases found, further evidence required in my opinion.

Created: 31 Jan 2017, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Native American myopathy 255995

Publications

• PMID 23736855
• 28003463