NAGLU

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

20 panels

Panel Reviews Mode of inheritance Details
20 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 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Red NAGLU in Ataxia and cerebellar anomalies - narrow panel


Version 2.39
Signed off v.2.23 on 8 Oct 2020

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 1.3
    Signed off v.1.2 on 18 Feb 2020

    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) 252920

    Red NAGLU in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    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 1.9

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

    Red NAGLU in Paroxysmal central nervous system disorders


    Version 1.10
    Signed off v.1.2 on 27 Feb 2020

    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 2.71
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

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

    Red NAGLU in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    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 1.440

    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 Inborn errors of metabolism


    Version 2.50
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.172
    Signed off v.1.92 on 21 Aug 2020

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

    Green NAGLU in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    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 1.381

    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 3.716
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    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 Cardiomyopathies - including childhood onset


    Version 1.18
    Signed off v.1.4 on 19 Feb 2020

    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 NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    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 or chorea or related movement disorder


    Version 1.72
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green NAGLU in Severe Paediatric Disorders


    Version 1.43

    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