Fetal anomalies
Gene: NUS1

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

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

One family with biallelic variants in 2 sibs (R290H, 1 het and 0 hom in GnomAD; PMID: 25066056). Biochemical function is consistent with inclusion of this gene in the list.

Two individuals in ClinVar with Congenital disorder of glycosylation, type Iaa (c.692-1G>A, c.99dup (p.Asn34fs)) but no additional information.

Heterozygous mutations in NUS1 can cause Developmental and epileptic encephalopathy (https://doi.org/10.1016/j.ajhg.2017.09.008)

De novo pathogenic splice variants causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis (https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1489-x)
Created: 15 Jul 2020, 3:42 a.m. | Last Modified: 15 Jul 2020, 3:42 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type 1aa

Publications

610463
25066056

Created: 15 Jul 2020, 3:42 a.m.
Last Modified: 15 Jul 2020, 3:42 a.m.
Panel version: Imported from Congenital Disorders of Glycosylation panel version 0.57

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

The CDG disorder caused by bi-allelic variants in this gene has iUGR as a feature. Note limited reports (one published, one ClinVar).

The DEE disorder associated with mono-allelic variants typically presents post-natally.
Created: 31 Jan 2022, 4:57 a.m. | Last Modified: 31 Jan 2022, 4:57 a.m.

Panel Version: 0.2964

Five individuals reported with de novo variants in this gene and epilepsy/ID phenotype (4 truncating variants and a small deletion).
Sources: Literature
Created: 4 Jan 2020, 1:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type 1aa

Publications

Created: 4 Jan 2020, 1:41 a.m.

Panel version: 0.2964

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genomics England PanelApp
Literature

Phenotypes

Congenital disorder of glycosylation, type 1aa, MIM#617082

OMIM

610463

Clinvar variants

Variants in NUS1

Penetrance

None

Publications

Panels with this gene