NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit
OMIM: 610463
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
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:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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