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Hereditary Neuropathy - complex

Gene: NAGA

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI.
Sources: NHS GMS
Created: 1 Apr 2020, 9:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kanzaki disease, MIM#609242

Created: 1 Apr 2020, 9:15 a.m.

Panel version: 0.40

History Filter Activity

1 Apr 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).

1 Apr 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).

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAGA was added gene: NAGA was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to Kanzaki disease, MIM#609242 Review for gene: NAGA was set to GREEN