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  2. Optic Atrophy
  3. DNM1L
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Optic Atrophy

Gene: DNM1L

Green List (high evidence)
DNM1L (dynamin 1 like)
EnsemblGeneIds (GRCh38): ENSG00000087470
EnsemblGeneIds (GRCh37): ENSG00000087470
OMIM: 603850, Gene2Phenotype
DNM1L is in 8 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in patients with isolated OA and as a feature of a multisystem disorder

PMID: 28969390; Gerber 2017: 2 different variants reported in 3 large families with isolated DOA. Functional studies shown to exert dominant-negative effect
PMID: 30850373; Assia 2019: Optic atrophy reported as a feature in a patient with a de novo missense. (reported gene as DLP1)
PMID: 17460227; Waterham 2007; Optic atrophy reported as a feature in 1 patient
Sources: Expert Review
Created: 15 Apr 2020, 3:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Optic atrophy 5 (MIM#610708)

Publications

Mode of pathogenicity
Other

Created: 15 Apr 2020, 3:02 a.m.

Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Optic atrophy 5 (MIM#610708)
OMIM
603850
Clinvar variants
Variants in DNM1L
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnm1l has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnm1l has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Crystle Lee (Victorian Clinical Genetics Services)

gene: DNM1L was added gene: DNM1L was added to Optic Atrophy. Sources: Expert Review Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM1L were set to 28969390; 30850373; 17460227 Phenotypes for gene: DNM1L were set to Optic atrophy 5 (MIM#610708) Mode of pathogenicity for gene: DNM1L was set to Other Review for gene: DNM1L was set to GREEN