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| Possible mitochondrial disorder - nuclear genes v1.94 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.69 | DNM2 | Arina Puzriakova commented on gene: DNM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v1.68 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.150 | DNM2 | Ellen McDonagh Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.150 | DNM2 | Ellen McDonagh Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.150 | DNM2 | Ellen McDonagh Publications for gene: DNM2 were set to 25492887, 25492887 (abstract) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.149 | DNM2 | Ellen McDonagh Classified gene: DNM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.149 | DNM2 | Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.149 | DNM2 | Ellen McDonagh Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.134 | DNM2 | Carl Fratter reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate B, 606482, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Centronuclear myopathy 1, 160150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.107 | DNM2 | Ellen McDonagh Classified gene: DNM2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.107 | DNM2 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.107 | DNM2 | Ellen McDonagh Gene: dnm2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | DNM2 | Ivone Leong reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25492887, 25492887 (abstract); Phenotypes: Centronuclear myopathy 1, 160150, Charcot-Marie-Tooth disease, axonal type 2M, 606482, Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | DNM2 |
Ivone Leong gene: DNM2 was added gene: DNM2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 25492887, 25492887 (abstract) Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, dominant intermediate B, 606482; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Centronuclear myopathy 1, 160150 |
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