Genes in panel

Hereditary neuropathy

Gene: NAGLU

Red List (low evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

More evidence needed. PMID: 25818867 - large French-Canadian family with a dominantly inherited late-onset painful sensory neuropathy, variant segregating with disease
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Single family but good segregation in large family
Created: 9 Dec 2015, 8:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Single family but good segregation in large family
Created: 8 Dec 2015, 3:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 for gene: NAGLU Publications for gene NAGLU were changed from to 25818867

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NAGLU.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NAGLU.

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

NAGLU was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

NAGLU was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review