NAGLU

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green NAGLU in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NAGLU in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 MONDO:0009656 Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 MONDO:0014665
Green NAGLU in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 MONDO:0009656 Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 MONDO:0014665
Green NAGLU in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Amber Royal Melbourne Hospital Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920 Seizures
Green NAGLU in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NAGLU in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green NAGLU in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
Amber NAGLU in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 HSAN/SFN
Amber NAGLU in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 0.34 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 Late-onset painful sensory neuropathy, AD
Green NAGLU in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Amber NAGLU in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Amber NHS GMS Phenotypes Mucopolysaccharidosis Type III MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) Mucopolysaccharidosis, Type III MUCOPOLYSACCHARIDOSIS TYPE 3B Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 Mucopolysaccharidosis Type IIIB
Green NAGLU in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sanfilippo syndrome type B
Red NAGLU in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
Green NAGLU in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Green NAGLU in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 Tags treatable metabolic
Green NAGLU in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)