Hereditary ataxia - adult onsetGene: 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 group
Created: 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 phenotype
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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