DNM1L

PanelMode of inheritanceDetails
5 panels
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, refractory epilepsy, refractory focal status epilepticus
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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))
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
R-numbers: R41, R42.2
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
OPTIC ATROPHY 5, 610708
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, Optic atrophy 5, 610708