Hereditary neuropathy
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
Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 for gene: NAGLU Publications for gene NAGLU were changed from to 25818867
Source NHS GMS was added to NAGLU.
Source South West GLH was added to NAGLU.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
NAGLU was created by MReilly-925
NAGLU was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review