NAGLU

Panel	Reviews	Mode of inheritance	Details
Filter panels 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

NAGLU

20 panels

Green NAGLU in Mucopolysaccharideosis, Gaucher, Fabry

Sources

Phenotypes

Red NAGLU in Hyperammonaemia

Sources

Red NAGLU in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green NAGLU in Lysosomal storage disorder

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Phenotypes

Red NAGLU in Hereditary ataxia

Sources

Phenotypes

Amber NAGLU in Pain syndromes

Sources

Phenotypes

Red NAGLU in Paroxysmal central nervous system disorders

Sources

Phenotypes

Green NAGLU in Skeletal dysplasia

Sources

Phenotypes

Red NAGLU in Neurodegenerative disorders - adult onset

Sources

Phenotypes

Green NAGLU in Undiagnosed metabolic disorders

Sources

Phenotypes

Green NAGLU in Inborn errors of metabolism

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Phenotypes

Amber NAGLU in Fetal anomalies

Sources

Phenotypes

Green NAGLU in DDG2P

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Phenotypes

Red NAGLU in Hereditary neuropathy

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Phenotypes

Green NAGLU in Intellectual disability

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Phenotypes

Red NAGLU in Hereditary ataxia - adult onset

Sources

Phenotypes

Amber NAGLU in Cardiomyopathies - including childhood onset

Sources

Phenotypes

Red NAGLU in Hereditary neuropathy NOT PMP22 copy number

Sources

Phenotypes

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

Sources

Green NAGLU in Severe Paediatric Disorders

Sources

Phenotypes