DNM1

PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
EPILEPTIC ENCEPHALOPATHY
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 31B, autosomal recessive, OMIM:620352, developmental and epileptic encephalopathy, 31B, MONDO:0957248, Developmental and epileptic encephalopathy 31A, autosomal dominant, OMIM:616346, developmental and epileptic encephalopathy, 31A, MONDO:0014598, DNM1 early infantile epileptic encephalopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 31B, autosomal recessive, OMIM:620352, developmental and epileptic encephalopathy, 31B, MONDO:0957248, Developmental and epileptic encephalopathy 31A, autosomal dominant, OMIM:616346, developmental and epileptic encephalopathy, 31A, MONDO:0014598, DNM1 early infantile epileptic encephalopathy