Mitochondrial disorders
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.
Victorian Clinical Genetics Services was added to DNM1L. Panel: Mitochondrial disorders
Publications for DNM1L were set to PMID: 26825290; 17460227
Mode of inheritance for DNM1L was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for DNM1L were set to PMID: 26825290
Mode of inheritance for DNM1L was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DNM1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
DNM1L was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen