Likely inborn error of metabolism - targeted testing not possible
Gene: DNM1L
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.
Source NHS GMS was added to DNM1L. Source London North GLH was added to DNM1L.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388; Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission; Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DNM1L Publications for gene DNM1L were changed from 17460227; PMID: 26825290 to 27604308
gene: DNM1L was added gene: DNM1L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DNM1L were set to 17460227; PMID: 26825290 Phenotypes for gene: DNM1L were set to Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388