PACS2

phosphofurin acidic cluster sorting protein 2
OMIM: 610423
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Unspecified Neurodevelopmental Disorder
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 66, 618067
R-numbers: R54
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile epileptic encephalopathy 66, 618067
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 66, 618067, Global developmental delay, Intellectual disability, Seizures, Abnormality of the cerebellum