Pain syndromes

Gene: NAGLU

Amber List (moderate evidence)

NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Marked as amber as only 2 families reported (one also have a het mutation in a know recessive CMT gene). Keep on the watchlist
Created: 13 Jul 2017, 10:15 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Only two families to date. To be reviewed by clinical team regarding the pertinence of this gene
Created: 11 Jul 2017, 1:33 p.m.
Mucopolysaccharidosis type IIIB, is caused by homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU). Painful axonal polyneuropathy in heterozygotes mucopolysacharidosis IIIB when homozygous. Two families PMID: 25818867 (2015) with Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation (note OMIM report this as one family). The reported that carriers from two families of a severe pathogenic mutation in NAGLU develop a late dominant painful axonal sensory neuropathy that evolves into a mild sensory ataxia with late electrophysiological signs of a concomitant motor polyneuropathy that together would allow it to be referred to as a (Charcot-Marie-Tooth disease, axonal, type 2V) CMT2
Created: 11 Jul 2017, 1:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

History Filter Activity

19 Sep 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD

19 Sep 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) (AR), 252920; Late-onset painful sensory neuropathy (AD)

11 Jul 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for NAGLU was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Jul 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) (AR); 252920;Late-onset painful sensory neuropathy (AD)

11 Jul 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

NAGLU was added to Pain syndromespanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

11 Jul 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B);252920

11 Jul 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B);252920

9 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Jul 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

NAGLU was added to Pain syndromespanel. Sources: Literaure,Review

9 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

NAGLU was created by LouiseD