Pain syndromes
Gene: NAGLUEnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two families with an adult onset painful axonal polyneuropathy. Family members in the large kindred carrying a missense showed a significant decrease of the enzymatic function (average 45%).Created: 25 Feb 2021, 4:44 a.m. | Last Modified: 25 Feb 2021, 4:44 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Genomics England PanelApp
- Phenotypes
-
- Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
- Late-onset painful sensory neuropathy, AD
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Pain syndromes
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: naglu has been classified as Amber List (Moderate Evidence).
Added New Source, Set Phenotypes, Status Update
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source Expert Review Amber was added to NAGLU. Added phenotypes Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 for gene: NAGLU Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NAGLU was added gene: NAGLU was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 25818867; 12202988 Phenotypes for gene: NAGLU were set to Late-onset painful sensory neuropathy, AD; Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920