SCAF4

SR-related CTD associated factor 4
OMIM: 616023
PanelMode of inheritanceDetails
3 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SCAF4-related Neurodevelopmental Disorder, Intellectual disability, Seizures, Behavioural abnormalities
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
SCAF4-related Neurodevelopmental Disorder, Intellectual disability, Seizures, Behavioural abnormalities
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SCAF4-related Neurodevelopmental Disorder, Intellectual disability, Seizures, Behavioural abnormalities