Genomics England
GMS Panels
Panels
Genes and Entities

PACS2

phosphofurin acidic cluster sorting protein 2
OMIM: 610423
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 66, 618067
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile epileptic encephalopathy 66, 618067
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 66, 618067, Global developmental delay, Intellectual disability, Seizures, Abnormality of the cerebellum