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Early onset or syndromic epilepsy
Gene: NAGA

NAGA (alpha-N-acetylgalactosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000198951
EnsemblGeneIds (GRCh37): ENSG00000198951
OMIM: 104170, Gene2Phenotype
NAGA is in 12 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

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 Schindler disease type I and III. Seizures have been reported as part of the phenotpye for both subtypes. Bakker et al, 2001 - table 3 summary of all reported patients only 3/11 reported with epilepsy (2 from Van Diggelen et al/Schindler et al - brothers and Keulemans et al - distant relative of the previous case), therefore 3 affecteds all from the same family. De Jong et al, 1994 - 2 Dutch sibs, 1 had seizures 1 didn't.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kanzaki disease 609242 ; Schindler disease, type I 609241 ; Schindler disease, type III 609241

Publications

11313741

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Created: 4 Dec 2018, 4:58 p.m.

Comment on publications: Added publications to support gene-disease association, and upgrading of the gene to Green
Created: 4 Dec 2018, 4:56 p.m.

Comment on mode of inheritance: Added MOI from external clinical review and publications
Created: 4 Dec 2018, 12:04 p.m.

Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Created: 4 Dec 2018, 11:52 a.m.

Created: 4 Dec 2018, 11:52 a.m.

Panel version: 0.1363

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.
Created: 17 Aug 2018, 8:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schindler disease, type I, MIM#609241

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

Created: 17 Aug 2018, 8:21 a.m.

Panel version: 0.335

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Schindler disease, type I, 609241
seizures

OMIM

104170

Clinvar variants

Variants in NAGA

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 NAGA.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NAGA.

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

4 Dec 2018, Gel status: 3