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 1.9

review Not set
Sources
  • Emory Genetics Laboratory

Red NAGLU in Ataxia and cerebellar anomalies - narrow panel


Version 2.223
Latest signed off version: v2.23 (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 1.74
    Latest signed off version: v1.2 (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) 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 1.235

    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 1.16
    Latest signed off version: v1.2 (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 2.113
    Latest signed off version: v2.2 (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 2.176
    Latest signed off version: v2.31 (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 1.470

    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 2.155
    Latest signed off version: v2.3 (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 1.700
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green NAGLU in DDG2P


    Version 2.40
    Latest signed off version: v2.2 (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 1.389

    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 3.1214
    Latest signed off version: v3.2 (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 2.81
    Latest signed off version: v2.13 (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 1.51
    Latest signed off version: v1.4 (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 1.34
    Latest signed off version: v1.2 (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 1.137
    Latest signed off version: v1.58 (6 Oct 2020)

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

    Green NAGLU in Severe Paediatric Disorders


    Version 1.81

    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