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ClinGen Gene Validity Curations

Gene: NGLY1

Green List (high evidence)
NGLY1 (N-glycanase 1)
EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 8 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.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: 20 Jun 2017, 3:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 23 Jun 2017, 11:51 a.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Other
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

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NGLY1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

20 Jun 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).

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NGLY1 was added to ClinGen Gene Validity Curationspanel. Sources: Other

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NGLY1 was created by ellenmcdonagh