Hereditary ataxia with onset in adulthood
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)
Late onset painful sensory neuropathy and very rare. Gene mainly causative of Mucopolysaccharidosis.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Single family reported, limited evidence. AR variants reported in Mucopolysaccharidosis type IIIB, ataxia doesn't seem to be a feature of this phenotypeCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CMT axon type 2V, 616491
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Red
- Hereditary ataxia v1.148
- Phenotypes
-
- CMT axon type 2V, 616491
- Sanfilippo syndrome B (AR) (OMIM #252920)
- Sensory neuropathy turning into a mild sensory ataxia (AD)
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Mucopolysaccharidosis type IIIB
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Skeletal dysplasia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to NAGLU.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes CMT axon type 2V, 616491 for gene: NAGLU
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NAGLU.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to NAGLU.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: NAGLU was added gene: NAGLU was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 25818867 Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD); Sanfilippo syndrome B (AR) (OMIM #252920) Mode of pathogenicity for gene: NAGLU was set to Other - please provide details in the comments