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Intellectual disability

Gene: DNM1L

No list

DNM1L (dynamin 1 like)
EnsemblGeneIds (GRCh38): ENSG00000087470
EnsemblGeneIds (GRCh37): ENSG00000087470
OMIM: 603850, Gene2Phenotype
DNM1L is in 10 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Dominant and recessive disease described depending on domain affected; dominant negative effect of heterozygous missense variants. LoF/LoF or LoF/missense for AR variants.
Sources: Expert list
Created: 1 Feb 2020, 10:10 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388
OMIM
603850
Clinvar variants
Variants in DNM1L
Penetrance
None
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DNM1L was added gene: DNM1L was added to Intellectual disability. Sources: Expert list 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, MIM#614388 Mode of pathogenicity for gene: DNM1L was set to Other Review for gene: DNM1L was set to GREEN gene: DNM1L was marked as current diagnostic