Paediatric or syndromic cardiomyopathy
Gene: NAGLUEnsemblGeneIds (GRCh38): ENSG00000108784
EnsemblGeneIds (GRCh37): ENSG00000108784
OMIM: 609701, Gene2Phenotype
NAGLU is in 20 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Ellen McDonagh (Genomics England Curator)
The guideline includes MPS type I (Hurler), other MPS disorders in Table 1, and the diagnostic test Leukocyte MPS enzymes, genetic analysis for this. Green genes on the Mucopolysaccharideosis, Gaucher, Fabry (Version 1.2) gene panel version 1.2 (code 75) that included a Mucopolysaccharidosis phenotype were added to this panel to represent the genes that would be included on the test from the guideline.Created: 30 Apr 2019, 4:48 p.m.
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 30 Apr 2019, 4:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type IIIB; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B
Publications
- National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp
Details
- Mode of Inheritance
- 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)
- OMIM
- 609701
- Clinvar variants
- Variants in NAGLU
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Mucopolysaccharidosis type IIIB
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Skeletal dysplasia
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to NAGLU. Source Expert Review Amber was added to NAGLU. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NAGLU was added gene: NAGLU was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,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 IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)