Hereditary neuropathy or pain disorder
Gene: NAGLU
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
More evidence needed. PMID: 25818867 - large French-Canadian family with a dominantly inherited late-onset painful sensory neuropathy, variant segregating with diseaseCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
Publications
Single family but good segregation in large familyCreated: 9 Dec 2015, 8:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Single family but good segregation in large familyCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: NAGLU was added gene: NAGLU was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: NAGLU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NAGLU were set to 25818867 Phenotypes for gene: NAGLU were set to ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491