This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
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
1 review
alisdair mcneill (Sheffield childrens hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta
- OMIM
- 607840
- Clinvar variants
- Variants in GNPTAB
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Skeletal dysplasia
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Osteogenesis imperfecta
- Intellectual disability
- Mucolipidosis II and III Alpha or Beta
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
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
29 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)GNPTAB was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN
29 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)GNPTAB was created by alicegardham