This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GALNS
GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD) - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis IVA 253000
- OMIM
- 612222
- Clinvar variants
- Variants in GALNS
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Skeletal dysplasia
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IVA
- Likely inborn error of metabolism
- Intellectual disability
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GALNS was added gene: GALNS was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA 253000