Paroxysmal central nervous system disorders
Gene: NAGLU
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
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
Gene: naglu has been classified as Red List (Low Evidence).
Gene: naglu has been classified as Red List (Low Evidence).
Source NHS GMS was added to NAGLU.
Source London North GLH was added to NAGLU.
Source Wessex and West Midlands GLH was added to NAGLU.
Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD for gene: NAGLU
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