Congenital myopathy
Gene: SPEG
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 5 615959
Publications
Variants in this GENE are reported as part of current diagnostic practice
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 5 615959
Publications
Comment when marking as ready: 3 separate families. Phenotype consistent with inclusion criteria.Created: 16 Feb 2017, 2:33 p.m.
3 families (unrelated) with biallelic mutations and severe phenotype including congenital weaknessCreated: 16 Feb 2017, 2:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 5 615959
Publications
Publications for gene: SPEG were set to PMID 25087613
Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5 615959 to Centronuclear myopathy 5, OMIM:615959
Source NHS GMS was added to SPEG.
Source London South GLH was added to SPEG. Rating Changed from Green List (high evidence) to 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 Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SPEG was added to Congenital myopathypanel. Sources: Literature
SPEG was created by helen.brittain