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  3. NAGLU
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Hereditary Neuropathy_CMT - isolated

Gene: NAGLU

Amber List (moderate evidence)
NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The association between bi-allelic variants and Sanfilippo B is well established. The disorder is characterized by the accumulation of heparan sulfate, resulting in progressive neurodegeneration, behavioural problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe.

Two families reported with mono-allelic variants and CMT.
Created: 13 Apr 2021, 11:23 p.m. | Last Modified: 13 Apr 2021, 11:23 p.m.
Panel Version: 0.7150

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920; Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491

Publications

Created: 13 Apr 2021, 11:23 p.m.
Last Modified: 13 Apr 2021, 11:23 p.m.
Panel version: Imported from Mendeliome panel version 0.7150

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two families reported segregating variants and family members in the large kindred carrying a missense showed a significant decrease of the enzymatic function (average 45%).
Created: 23 Mar 2020, 6:49 a.m. | Last Modified: 23 Mar 2020, 6:49 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491

Publications

Created: 23 Mar 2020, 6:49 a.m.
Last Modified: 23 Mar 2020, 6:49 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
  • HSAN/SFN
OMIM
609701
Clinvar variants
Variants in NAGLU
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jan 2020, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NAGLU was added gene: NAGLU was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; HSAN/SFN