Optic neuropathy
Gene: DNM1LEnsemblGeneIds (GRCh38): ENSG00000087470
EnsemblGeneIds (GRCh37): ENSG00000087470
OMIM: 603850, Gene2Phenotype
DNM1L is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. There are 3 unrelated cases with different variants in OMIM. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.Created: 21 Mar 2019, 11 a.m.
Tom Cullup (Great Ormond Street Hospital)
3 families in OMIM, 2 of which with same founder mutation. Large pedigrees showing consistent segregation with disease.Created: 19 Mar 2019, 3:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
OPTIC ATROPHY 5, 610708
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London North GLH
- Phenotypes
-
- OPTIC ATROPHY 5, 610708
- OMIM
- 603850
- Clinvar variants
- Variants in DNM1L
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Optic neuropathy
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: dnm1l has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DNM1L were set to 28969390
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DNM1L were changed from to OPTIC ATROPHY 5, 610708
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DNM1L were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: DNM1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: DNM1L was added gene: DNM1L was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: DNM1L was set to