Congenital myopathy
Gene: STAC3
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.
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 familiesCreated: 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
Phenotypes for gene: STAC3 were changed from Myopathy, congenital, Baily-Bloch, 255995 to Myopathy, congenital, Baily-Bloch, OMIM:255995
Source NHS GMS was added to STAC3.
Source London South GLH was added to STAC3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene: STAC3 were changed from Native American myopathy, 255995 (3) to Myopathy, congenital, Baily-Bloch, 255995
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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 STAC3 were set to 23736855; 28003463
Mode of inheritance for STAC3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
STAC3 was added to Congenital myopathypanel. Sources: Expert
STAC3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen