Congenital myopathy
Gene: MYBPC1
Comment on list classification: Changed from Red to Green. Gene referred to Genomics England clinical team due to review by the GMS Neurology specialist test group. It was agreed that as this represents a clinical continuum, we should represent the genes on both Congenital myopathy and Arthrogryposis panels as for Genomic Medicine Service it is possible that diagnoses could come from either route so we would not want to miss them. For the 100K Genomes Project participants we tended to apply both Congenital myopathy and Arthrogryposis panels, even though there was a more arbitrary line drawn between contractures / not for allocating genes to a particular panel. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.Created: 18 Oct 2019, 1:12 p.m. | Last Modified: 18 Oct 2019, 1:18 p.m.
Panel Version: 1.191
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Publications
Variants in this GENE are reported as part of current diagnostic practice
variants in this gene were found in patients tested in Viapath/100K.
this gene causes "myopathic" forms of AMC and therefore it would be appropriate to keep these genes in a myopathy panel. perhaps it might be possible to create a subpanel for diff forms (neurogenic, myopathic, CMS?) of AMC.Created: 30 May 2019, 5:08 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: In view of expert opinion as green, further opinion sought. Arianna Tucci, Genomics England curator agrees that the phenotype is of arthrogryposis and therefore best placed on that panel. Expert contacted to ask if they have evidence of myopathy without arthrogryposis in this gene as this would require green status on this panel.Created: 7 Mar 2017, 2:42 p.m.
Comment when marking as ready: Arthrogryposis presentation, not weaknessCreated: 3 Feb 2017, 12:17 p.m.
Myopathy is not a reported feature. Phenotypes are consistent with arthrogryposis (already on panel)Created: 31 Jan 2017, 10:27 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Publications
Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915 to Arthrogryposis, distal, type 1B, OMIM:614335; Lethal congenital contracture syndrome 4, OMIM:614915; Myopathy, congenital, with tremor, OMIM:618524
Gene: mybpc1 has been classified as Green List (High Evidence).
Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915
Publications for gene: MYBPC1 were set to 20045868; 22101682
Phenotypes for gene: MYBPC1 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Phenotypes for gene: MYBPC1 were changed from Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915 to Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Publications for gene: MYBPC1 were set to 20045868
Source NHS GMS was added to MYBPC1.
Source London South GLH was added to MYBPC1.
This gene has been classified as Red List (Low 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).
Phenotypes for MYBPC1 were set to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4 614915
Publications for MYBPC1 were set to 20045868
Mode of inheritance for MYBPC1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
MYBPC1 was added to Congenital myopathypanel. Sources: Expert