1. Genes and Genomic Entities
  2. NAGLU

NAGLU

N-acetyl-alpha-glucosaminidase
OMIM: 609701, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green NAGLU in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
  • Mucopolysaccharidosis, Type III
  • Mucopolysaccharidosis Type IIIB
  • Mucopolysaccharidosis Type III
  • MUCOPOLYSACCHARIDOSIS TYPE 3B
Red NAGLU in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Red NAGLU in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
    Green NAGLU in Lysosomal storage disorder


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    		review 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
    Red NAGLU in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert review
    Phenotypes
    • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
    Amber NAGLU in Pain syndromes

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.12

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert Review Amber
    • Literaure
    • Review
    Phenotypes
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
    • Late-onset painful sensory neuropathy, AD
    Red NAGLU in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
    • Late-onset painful sensory neuropathy, AD
    Green NAGLU in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
    Red NAGLU in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
    Green NAGLU in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
    • Mucopolysaccharidosis, Type III
    • Mucopolysaccharidosis Type IIIB
    • Mucopolysaccharidosis Type III
    • MUCOPOLYSACCHARIDOSIS TYPE 3B
    Green NAGLU in Likely inborn error of metabolism - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis Type III
    • Mucopolysaccharidosis, Type III
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
    • MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
    • MUCOPOLYSACCHARIDOSIS TYPE 3B
    • Mucopolysaccharidosis Type IIIB
    Amber NAGLU in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 3B
    Green NAGLU in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 3B 252920
    Red NAGLU in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    • Expert Review
    Phenotypes
    • ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
    Green NAGLU in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
    • MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B)
    Red NAGLU in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • CMT axon type 2V, 616491
    • Sanfilippo syndrome B (AR) (OMIM #252920)
    • Sensory neuropathy turning into a mild sensory ataxia (AD)
    Amber NAGLU in Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • MetBioNet
    • MetBioNet
    Phenotypes
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
    • Mucopolysaccharidosis Type IIIB
    • MUCOPOLYSACCHARIDOSIS TYPE 3B
    • Mucopolysaccharidosis, Type III
    • Mucopolysaccharidosis Type III
    • MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)
    Red NAGLU in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    		review 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
    Red NAGLU in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green NAGLU in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491
    • Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920
    Green NAGLU in Mucopolysaccharidosis type IIIB


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS