PACS2

phosphofurin acidic cluster sorting protein 2
OMIM: 610423
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 66, 618067
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile epileptic encephalopathy 66, 618067
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 66, 618067, Global developmental delay, Intellectual disability, Seizures, Abnormality of the cerebellum