Hereditary ataxia

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

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence with this phenotype
Created: 11 Jul 2016, 5:43 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Large amount of segregation data in a single family for a missense variant which may have dominant negative effect. Weaker evidence for a nonsense variant in a second family (variant would be a loss of function).
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)

Publications

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

NAGLU was added to Hereditary ataxiapanel. Sources: Expert review

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

NAGLU was created by jonathan.williams