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Mucopolysaccharidosis type IIIB
Gene: NAGLU
NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #252920) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 9 p.m. | Last Modified: 20 Dec 2025, 9 p.m.
Panel Version: 1.2
NAGLU has been added to the panel for R292 Mucopolysaccharidosis type IIIB with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:44 p.m. | Last Modified: 30 Jun 2023, 2:44 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis type IIIB (Sanfilippo B), OMIM:252920
- mucopolysaccharidosis type 3B, MONDO:0009656
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Skeletal dysplasia
- Mucopolysaccharidosis type IIIB
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Pain syndromes
- Hereditary ataxia
- DDG2P
- Hereditary neuropathy
- Lysosomal storage disorder
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: NAGLU were changed from to Mucopolysaccharidosis type IIIB (Sanfilippo B), OMIM:252920; mucopolysaccharidosis type 3B, MONDO:0009656
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: NAGLU was added gene: NAGLU was added to Mucopolysaccharidosis type IIIB. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal