Mitochondrial DNA maintenance disorder
Gene: DNM2The 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.Created: 3 Aug 2022, 3:32 p.m. | Last Modified: 3 Aug 2022, 3:32 p.m.
Panel Version: 1.10
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:09 p.m. | Last Modified: 9 Mar 2022, 12:09 p.m.
Panel Version: 1.6
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: DNM2; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Centronuclear myopathy 1, 160150; Charcot-Marie-Tooth disease, axonal type 2M, 606482; Charcot-Marie-Tooth disease, dominant intermediate B, 606482
Publications
Comment when marking as ready: Remain red for now due to second reviewer comments.Created: 7 Mar 2016, 5:50 p.m.
Mode of inheritance for gene DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM2 were set to 25492887, 25492887 (abstract)
gene: DNM2 was added gene: DNM2 was added to Mitochondrial DNA maintenance disorder. 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