Early onset or syndromic epilepsy
Gene: NGLY1
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
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
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.
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
Source Wessex and West Midlands GLH was added to NGLY1.
Source NHS GMS was added to NGLY1.
Zornitza Stark: Seizures are part of the pheno
Gene: ngly1 has been classified as Green List (High Evidence).
Gene: ngly1 has been classified as Green List (High Evidence).
Gene: ngly1 has been classified as Green List (High Evidence).
Publications for gene: NGLY1 were set to 22581936; 24651605
Publications for gene: NGLY1 were set to
Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ngly1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation 615273
Expert Review Amber was added to NGLY1. Panel: Genetic Epilepsy Syndromes
NGLY1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NGLY1 was created by Sarah Leigh