Cardiomyopathy_Paediatric
Gene: NAGLU
NAGLU (N-acetyl-alpha-glucosaminidase)
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 16 panels
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Details
- Mode of Inheritance
- 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
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Pain syndromes
History Filter Activity
28 Jul 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NAGLU was added gene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 27604308 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB