Inborn errors of metabolism
Gene: NUS1
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
Gene: nus1 has been classified as Amber List (Moderate Evidence).
Publications for gene: NUS1 were set to 25066056
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
Publications for gene: NUS1 were set to
Sarah Leigh: Associated with phenotype in O
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