1. Genes and Genomic Entities
  2. NGLY1

NGLY1

N-glycanase 1
OMIM: 610661, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green NGLY1 in Congenital disorders of glycosylation


Level 2: Metabolic
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Congenital disorder of deglycosylation 615273
    Green NGLY1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Alacrimia-choreoathetosis-liver dysfunction syndrome
    • OrphaNet: ORPHA404454
    • OMIM:615273
    Green NGLY1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.92
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • OrphaNet: ORPHA404454
    • Congenital disorder of deglycosylation 615273
    • Alacrimia-choreoathetosis-liver dysfunction syndrome
    • OMIM:615273
    Red NGLY1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.155
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CONGENITAL DISORDER OF DEGLYCOSYLATION
    Green NGLY1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL DISORDER OF DEGLYCOSYLATION 615273
    Green NGLY1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.131
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital disorder of deglycosylation 615273
    Green NGLY1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.294
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • CONGENITAL DISORDER OF DEGLYCOSYLATION
    • CDDG
    Green NGLY1 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Congenital disorder of deglycosylation, 615273