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Severe Paediatric Disorders

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, 1:41 p.m. | Last Modified: 30 Jul 2020, 1:41 p.m.
Panel Version: 1.10

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NGLY1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Congenital disorder of deglycosylation, 615273 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital disorder of deglycosylation, 615273
OMIM
610661
Clinvar variants
Variants in NGLY1
Penetrance
None
Publications
Panels with this gene