Paroxysmal central nervous system disorders
Gene: NAGLUEnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Demoted NAGLU from Amber to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.85
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
- Late-onset painful sensory neuropathy, AD
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Mucopolysaccharidosis type IIIB
- Hereditary ataxia with onset in adulthood
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Pain syndromes
- DDG2P
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
- Lysosomal storage disorder
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: naglu has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: naglu has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to NAGLU.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NAGLU.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to NAGLU.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD for gene: NAGLU
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NAGLU was added gene: NAGLU was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 12202988; 25818867 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD