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Genetic Epilepsy

Gene: NAGA

Amber List (moderate evidence)

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

3 reviews

Rylee Peters (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 8782044
- Cohort with alpha-NAGA deficiency; 3/8 patients described with epilepsy who all have the same homozygous variant (p.E325K). 2 of these individuals are brothers.
- This variant, p.E325K, has a very high frequency in gnomAD (v4), 5890 hets and 12 homs.

PMID: 31468281
- Paper describes a total of seven missense variants that have been reported, affecting 13 individuals from 8 families.
- 1/13 individuals are described with severe epilepsy and are homozygous
- The same homozygous variant is also present in an asymptomatic individual.

PMIDs: 15619430, 31890708 don't list epilepsy/seizures as a phenotype
PMID: 11313741 refers to the same patient with epilepsy as PMID: 8782044
Created: 20 Dec 2023, 4:57 a.m. | Last Modified: 20 Dec 2023, 4:57 a.m.
Panel Version: 0.2060

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Alpha-N-acetylgalactosaminidase (NAGA) deficiency has 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations. Multiple families reported, mouse model.
Created: 13 Apr 2021, 11:17 p.m. | Last Modified: 13 Apr 2021, 11:17 p.m.
Panel Version: 0.7148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 11313741; a total of 7 families/unrelated probands. A mix of homozygous missense or PTC
PMID: 31468281; describes a large consanguineous family with homozygous missense
Created: 22 Jan 2020, 1:53 a.m. | Last Modified: 22 Jan 2020, 1:53 a.m.
Panel Version: 0.913

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Schindler disease, type I and type II 609241
OMIM
104170
Clinvar variants
Variants in NAGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Mar 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAGA were changed from to Schindler disease, type I and type II 609241

27 Mar 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAGA were set to

27 Mar 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAGA was added gene: NAGA 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: NAGA was set to Unknown