Cardiomyopathy_Paediatric
Gene: GNS
GNS (glucosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000135677
EnsemblGeneIds (GRCh37): ENSG00000135677
OMIM: 607664, Gene2Phenotype
GNS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000135677
EnsemblGeneIds (GRCh37): ENSG00000135677
OMIM: 607664, Gene2Phenotype
GNS is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- MetBioNet
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis type IIID, 252940
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis, Type III
- MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)
- OMIM
- 607664
- Clinvar variants
- Variants in GNS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
28 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GNS was added gene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 27604308 Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses)