DEPDC5

DEP domain containing 5
OMIM: 614191
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.9
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epilepsy, familial focal, with variable foci 1, OMIM:604364
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 111, OMIM:620504
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, familial focal, with variable foci 1, OMIM:604364
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 6.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epilepsy, familial focal, with variable foci 1, OMIM:604364, Focal cortical dysplasia