Osteogenesis imperfecta
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
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added by reviewer. No expert reviews for this gene to date, and unclear whether a confirmed gene for mucolipidosis should be included on a OI panel.Created: 12 May 2016, 1:34 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- I-cell disease (Mucolipidosis Type II)
- OMIM
- 607840
- Clinvar variants
- Variants in GNPTAB
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Osteogenesis imperfecta
- Fetal hydrops
- Retinal disorders
- Likely inborn error of metabolism
- Mucolipidosis II and III Alpha or Beta
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
12 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
12 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 Nov 2015, Gel status: 0
Created
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)GNPTAB was created by [email protected]
27 Nov 2015, Gel status: 0
Added New Source
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)GNPTAB was added to Osteogenesis Imperfectapanel. Sources: Expert Review