Possible mitochondrial disorder - nuclear genes
Gene: DNM1L
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708
Monoallelic = de novo dominant mutations - dominant negative effect
Biallelic = loss of function mutations
Created: 12 Jul 2016, 2 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
Other
Comment on list classification: Carl Fratter also agrees this should be green.Created: 7 Mar 2016, 5:48 p.m.
gene: DNM1L was added gene: DNM1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708