Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: NGLY1

Green List (high evidence)

NGLY1 (N-glycanase 1)
EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 9 panels

1 review

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: https://search.clinicalgenome.org/kb/gene-validity/5619.
Created: 25 Jul 2017, 3:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OrphaNet: ORPHA404454
  • Congenital disorder of deglycosylation 615273
  • Alacrimia-choreoathetosis-liver dysfunction syndrome
  • OMIM:615273
OMIM
610661
Clinvar variants
Variants in NGLY1
Penetrance
None
Publications
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