Hereditary neuropathy or pain disorder
Gene: NAGLUEnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
Natalie Forrester (SWGLH - Bristol Genetics)
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
Alexander Rossor (UCL Institute of Neurology)
Single family but good segregation in large familyCreated: 9 Dec 2015, 8:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
Single family but good segregation in large familyCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert Review Red
- Expert Review
- NHS GMS
- NHS GMS
- South West GLH
- Phenotypes
-
- ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Mucopolysaccharidosis type IIIB
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Skeletal dysplasia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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