Skeletal dysplasia
Gene: GALNSEnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels
4 reviews
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, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GALNS; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:49 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mucopolysaccharidosis IVA 253000
- OMIM
- 612222
- Clinvar variants
- Variants in GALNS
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharideosis, Gaucher, Fabry
- Skeletal dysplasia
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mucopolysaccharidosis type IVA
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Mucopolysaccharidosis IVA 253000 for gene: GALNS
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to GALNS. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GALNS were set to Mucopolysaccharidosis IVA 253000
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GALNS was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)GALNS was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)GALNS was added to Unexplained skeletal dysplasiapanel. Sources: