Congenital disorders of glycosylation

Gene: NGLY1

PMID: 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

• 32259258

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q96IV0-1

Created: 9 Jan 2020, 2:40 p.m. | Last Modified: 9 Jan 2020, 2:40 p.m.

Panel Version: 2.0

Green List (high evidence)

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

• 24651605
• 22581936

Red List (low evidence)

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

• 24651605