Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA, Morquio A
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 612222
- Clinvar variants
- Variants in GALNS
- Penetrance
- Complete
- Panels with this gene
-
- Mucopolysaccharidosis type IVA
- Undiagnosed metabolic disorders
- Intellectual disability
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Mucopolysaccharideosis, Gaucher, Fabry
- DDG2P
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)GALNS was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory