Genomics England
GMS Panels
Panels
Genes and Entities

SCAMP5

secretory carrier membrane protein 5
OMIM: 613766
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology, Behavioral abnormality
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology, Behavioral abnormality