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Genetic epilepsy syndromes

Gene: NGLY1

Green List (high evidence)

NGLY1 (N-glycanase 1)
EnsemblGeneIds (GRCh38): ENSG00000151092
EnsemblGeneIds (GRCh37): ENSG00000151092
OMIM: 610661, Gene2Phenotype
NGLY1 is in 10 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR congenital disorder of glycosylation type 1A. Need et al, 2012 and Shashi, 2013 - boy with a CDG phenotype incl intractable mutlifocal epilepsy - compound het for a fs and a nonsense variant - looked a tprotein expression in blood leukocytes. Enns et al, 2014 - 8 patients from 5 families with CCDG - all patients had EEG abnormalities and 4 patients (from 4 diff families) developed seizures usually intractable - hom stop mutation in 5 patients from 3 families - all caucasian, European ethnicity - ? founder effect. Other two patients had bialleleic mutations.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures.
Created: 11 Dec 2018, 9:30 a.m.
Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures.
Created: 11 Dec 2018, 9:29 a.m.
Comment on publications: PMID: 24651605 - 4 out of 8 patients with deficiency of N-glycanase 1 had seizures as a clinical feature.
Created: 11 Dec 2018, 9:28 a.m.
Comment on publications: PMID: 22581936 - describes a male proband with developmental delay, multifocal epilepsy, involuntary movements, abnormal liver function, absent tears. Sequencing revealed a frameshift variant inherited from his mother and a nonsense mutation from his father.
Created: 11 Dec 2018, 9:23 a.m.
Comment on list classification: This is a Green gene on the Congenital disorders of glycosylation (Version 1.20) gene panel, with more than 4 families/cases with Congenital disorder of deglycosylation reported with variants in this gene.
Created: 11 Dec 2018, 9:13 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 17 Aug 2018, 10:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation, MIM#615273

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
OMIM
610661
Clinvar variants
Variants in NGLY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NGLY1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NGLY1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

11 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

11 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

11 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NGLY1 were set to 22581936; 24651605

11 Dec 2018, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: NGLY1 were set to

11 Dec 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ngly1 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to NGLY1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NGLY1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NGLY1 was created by Sarah Leigh