| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital myopathy v3.66 | MYBPC1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.191 | MYBPC1 | Louise Daugherty changed review comment from: 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.185 | MYBPC1 | Louise Daugherty Classified gene: MYBPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.185 | MYBPC1 | Louise Daugherty Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.185 | MYBPC1 | Louise Daugherty Gene: mybpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.149 | MYBPC1 |
Anna Sarkozy edited their review of gene: MYBPC1: Added comment: 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.; Set current diagnostic: yes |
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| Congenital myopathy v1.135 | MYBPC1 | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.134 | MYBPC1 | Louise Daugherty Publications for gene: MYBPC1 were set to 20045868; 22101682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.120 | MYBPC1 | Rachael Mein edited their review of gene: MYBPC1: Changed publications: 20045868; Changed phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4 614915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.92 | MYBPC1 | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.91 | MYBPC1 | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.90 | MYBPC1 | Louise Daugherty Publications for gene: MYBPC1 were set to 20045868 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.76 | MYBPC1 | Louise Daugherty reviewed gene: MYBPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.75 | MYBPC1 | Rachael Mein reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22101682; Phenotypes: Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.74 | MYBPC1 | Louise Daugherty Source NHS GMS was added to MYBPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.73 | MYBPC1 | Louise Daugherty Source London South GLH was added to MYBPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | MYBPC1 | Helen Brittain marked MYBPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | MYBPC1 | Anna Sarkozy reviewed MYBPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | MYBPC1 | Helen Brittain marked MYBPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | MYBPC1 | Helen Brittain reviewed MYBPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||