Hereditary ataxia with onset in adulthood
Gene: NAGLU
Late onset painful sensory neuropathy and very rare. Gene mainly causative of Mucopolysaccharidosis.Created: 27 Apr 2019, 7:39 p.m.
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.
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
Source London North GMS was added to NAGLU.
Added phenotypes CMT axon type 2V, 616491 for gene: NAGLU
Source NHS GMS was added to NAGLU.
Source Wessex and West Midlands GLH was added to NAGLU.
Louise Daugherty: Comment on phenotypes: Implica
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