Hyperammonaemia
Gene: GNPTAB
GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits)
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000111670
EnsemblGeneIds (GRCh37): ENSG00000111670
OMIM: 607840, Gene2Phenotype
GNPTAB is in 15 panels
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
N-acetylglucosamine-1-phosphotransferase deficiency, lysosomal targeting defect, mucolipidosis II/III
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
- 607840
- Clinvar variants
- Variants in GNPTAB
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal dysplasia
- Mucopolysaccharideosis, Gaucher, Fabry
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Osteogenesis imperfecta
- Intellectual disability
- Mucolipidosis II and III Alpha or Beta
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- 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)GNPTAB was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory