This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
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
alisdair mcneill (Sheffield childrens hospital)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Mucopolysachharidosis IVA (Morquio)
- OMIM
- 612222
- Clinvar variants
- Variants in GALNS
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Skeletal dysplasia
- Undiagnosed metabolic disorders
- Mucopolysaccharidosis type IVA
- Mucopolysaccharideosis, Gaucher, Fabry
- DDG2P
- Hyperammonaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Fetal hydrops
- Intellectual disability
- Likely inborn error of metabolism
History Filter Activity
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
30 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)GALNS was created by alicegardham
30 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)GALNS was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN