Genes in panel

Inborn errors of metabolism

Gene: NUS1

Amber List (moderate evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting from red to amber on advice from Genomics England clinical team. 1 case plus some functional data.
Created: 12 Jan 2021, 11:15 p.m. | Last Modified: 12 Jan 2021, 11:15 p.m.
Panel Version: 2.44
Provisionally associated with ?Congenital disorder of glycosylation, type 1aa #617082 (AR) in OMIM based on family reported in Park et al 2014 (PMID: 25066056). They describe a family of Roma origin in which 2 out of 4 siblings presented with congenital scoliosis, severe neurological impairment, refractory epilepsy, hearing deficit and visual impairment with discrete bilateral macular lesions. A homozgyous missense mutation, R290H, was found in NUS1 (called NGBR in the paper) by exome sequencing. It segregated with the disease in the family. Patient fibroblasts showed reduced dolichol profiles and enhanced accumulation of free cholesterol as do fibroblasts from mice lacking NgBR.
Created: 12 Jan 2021, 11:11 p.m. | Last Modified: 12 Jan 2021, 11:11 p.m.
Panel Version: 2.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Congenital disorder of glycosylation, type 1aa OMIM:617082; congenital disorder of glycosylation, type IAA MONDO:0014904

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Congenital disorder of glycosylation, type 1aa OMIM:617082
  • congenital disorder of glycosylation, type IAA MONDO:0014904
OMIM
610463
Clinvar variants
Variants in NUS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: nus1 has been classified as Amber List (Moderate Evidence).

12 Jan 2021, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NUS1 were set to 25066056

12 Jan 2021, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NUS1 were changed from ?Congenital disorder of glycosylation, type 1aa 617082 to ?Congenital disorder of glycosylation, type 1aa OMIM:617082; congenital disorder of glycosylation, type IAA MONDO:0014904

12 Jan 2021, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NUS1 were set to

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