Congenital disorders of glycosylation
Gene: NGLY1PMID: 32259258 - Asahina et al 2020 - generated Ngly1−/− rats which showed developmental delay, movement disorder, somatosensory impairment and scoliosis consistent with symptoms in human patients.Created: 30 Jul 2020, 1:40 p.m. | Last Modified: 30 Jul 2020, 1:40 p.m.
Panel Version: 2.14
Publications
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q96IV0-1Created: 9 Jan 2020, 2:40 p.m. | Last Modified: 9 Jan 2020, 2:40 p.m.
Panel Version: 2.0
Review from Helen Britain (Clinical Fellow, Genomics England)
Rationale for green rating
- The phenotype overlaps relatively strongly in terms of multi-system disorder including GDD/ ID, movement disorder / seizures
- There are 4 unrelated families with very similar phenotypes
- There are at least 4 variants with frameshift / nonsense predictions reported
Created: 22 Aug 2017, 12:12 p.m.
Publications
The evidence for this gene causing a rare congenital disease is very strong. The reason to be doubtful about inclusion in the list is that it is a de-glycoyslation disoder rather than a glycosylation one. This means phenotypes could be more akin to lysosomal storage disorders than CDGs.Created: 14 Dec 2016, 3:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
This gene has been classified as Green List (High Evidence).
Promoted to V1 19th December 2016
NGLY1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
NGLY1 was created by sleigh