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Mendeliome

Gene: NAGA

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kanzaki disease, MIM# 609242
  • Schindler disease, type I and type II 609241
  • alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
OMIM
104170
Clinvar variants
Variants in NAGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAGA were changed from Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241) to Kanzaki disease, MIM# 609242; Schindler disease, type I and type II 609241; alpha-N-acetylgalactosaminidase deficiency MONDO:0017779

13 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAGA were set to 1313741; 31468281

22 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAGA were changed from to Kanzaki disease (MIM # 609242); Schindler disease, type I or III (MIM# 609241)

22 Jan 2020, Gel status: 3

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

22 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAGA were set to

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NAGA was set to Unknown