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Inborn errors of metabolism

Gene: NUS1

Red List (low evidence)

NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit)
EnsemblGeneIds (GRCh38): ENSG00000153989
EnsemblGeneIds (GRCh37): ENSG00000153989
OMIM: 610463, Gene2Phenotype
NUS1 is in 7 panels

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Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • ?Congenital disorder of glycosylation, type 1aa 617082
Clinvar variants
Variants in NUS1
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NUS1 was added gene: NUS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NUS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUS1 were set to ?Congenital disorder of glycosylation, type 1aa 617082