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Undiagnosed metabolic disorders

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
  • Expert Review
Phenotypes
  • Alacrimia-choreoathetosis-liver dysfunction syndrome
  • OrphaNet: ORPHA404454
  • OMIM:615273
OMIM
610661
Clinvar variants
Variants in NGLY1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NGLY1 was added to Undiagnosed metabolic disorderspanel. Sources: Expert Review

25 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NGLY1 was created by ellenmcdonagh