NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit
OMIM: 610463
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy and intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal dominant 55, with seizures, OMIM:617831, Congenital disorder of glycosylation, type 1aa, OMIM:617082
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal dominant 55, with seizures, OMIM:617831, Congenital disorder of glycosylation, type 1aa, OMIM:617082