SCAMP5

secretory carrier membrane protein 5
OMIM: 613766
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology, Behavioral abnormality
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology, Behavioral abnormality