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Genetic Epilepsy

Gene: NGLY1

Green List (high evidence)

NGLY1 (N-glycanase 1)
EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 affected individuals reported with bi-allelic variants in this gene.
Created: 30 Jul 2020, 11:16 p.m. | Last Modified: 30 Jul 2020, 11:16 p.m.
Panel Version: 0.3600

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation, MIM# 615273

Publications

Eleanor Williams (Genomics England)

Additional evidence - 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, 1:46 p.m. | Last Modified: 30 Jul 2020, 1:46 p.m.
Panel Version: 0.3590

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of deglycosylation, MIM# 615273
OMIM
610661
Clinvar variants
Variants in NGLY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ngly1 has been classified as Green List (High Evidence).

16 Apr 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273

16 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NGLY1 were set to

16 Apr 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NGLY1 was added gene: NGLY1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NGLY1 was set to Unknown