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| Mitochondrial disorders v2.117 | DNM2 | Arina Puzriakova commented on gene: DNM2: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.88 | DNM2 | Arina Puzriakova commented on gene: DNM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.87 | DNM2 | Arina Puzriakova Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.317 | DNM2 | Sarah Leigh Classified gene: DNM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.317 | DNM2 |
Sarah Leigh Added comment: Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 1 case with multiple deletions and COX negative fibres; 5 cases presented in a poster with dominant DMN2 variants (had COX deficient muscle fibres, one case with the p.Arg369Trp revealed disruption of the dynamic mitochondrial network, https://doi.org/10.1016/j.nmd.2012.06.124). From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187). |
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| Mitochondrial disorders v1.317 | DNM2 | Sarah Leigh Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.316 | DNM2 | Sarah Leigh Phenotypes for gene: DNM2 were changed from Disorders of mitochondrial DNA maintenance and integrity to Centronuclear myopathy 1, 160150; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Charcot-Marie-Tooth disease, dominant intermediate B, 606482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.315 | DNM2 | Sarah Leigh Publications for gene: DNM2 were set to 23813975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.314 | DNM2 | Sarah Leigh Mode of inheritance for gene: DNM2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.293 | DNM2 |
Sarah Leigh Source NHS GMS was added to DNM2. Source Expert Review Green was added to DNM2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Mitochondrial disorders v1.242 | DNM2 | Ivone Leong Publications for gene: DNM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||