Congenital Disorders of Glycosylation

Gene: NUS1

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