Hereditary neuropathy
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
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Fetal anomalies
- 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
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 for gene: NAGLU Publications for gene NAGLU were changed from to 25818867
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NAGLU.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to NAGLU.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Mary Reilly (Institute of Neurology)NAGLU was created by MReilly-925
Added New Source
Mary Reilly (Institute of Neurology)NAGLU was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review