Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: NGLY1

Green List (high evidence)

NGLY1 (N-glycanase 1)
EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 10 panels

2 reviews

Eleanor Williams (Genomics England Curator)

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, 1:44 p.m. | Last Modified: 30 Jul 2020, 1:44 p.m.
Panel Version: 2.15


Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added to this panel and promoted to green due to ClinGen review and internal confirmation with Arianna Tucci for clinical input.
Created: 25 Jul 2017, 3:22 p.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification and DEFINITIVE by Expert curation (dated 12/01/2016). Available here:
Created: 25 Jul 2017, 3:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alacrimia-choreoathetosis-liver dysfunction syndrome; OrphaNet: ORPHA404454; OMIM:615273



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • OrphaNet: ORPHA404454
  • Congenital disorder of deglycosylation 615273
  • Alacrimia-choreoathetosis-liver dysfunction syndrome
  • OMIM:615273
Clinvar variants
Variants in NGLY1
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes OrphaNet: ORPHA404454; Alacrimia-choreoathetosis-liver dysfunction syndrome; OMIM:615273 for gene: NGLY1 Publications for gene NGLY1 were changed from to 25220016; 26350515; 25900930; 24651605; 25605922; 22581936; 25707956

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NGLY1 was added gene: NGLY1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation 615273