Lysosomal storage disorder
Gene: NAGLUEnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
2 reviews
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
- Phenotypes
-
- Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920
- Sanfilippo syndrome type B MONDO:0009656
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Lysosomal storage disorder
- Hereditary ataxia, adult onset
- Skeletal dysplasia
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Mucopolysaccharidosis type IIIB
- Hyperammonaemia
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Paroxysmal central nervous system disorders
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy
- Fetal anomalies
- Pain syndromes
- DDG2P
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NAGLU was added gene: NAGLU was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920