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Mucolipidosis II and III Alpha or Beta
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #252500 & #252600) and the OMIM records were last accessed on 20 December 2025.Created: 20 Dec 2025, 8:44 p.m. | Last Modified: 20 Dec 2025, 8:44 p.m.
Panel Version: 1.2
GNPTAB has been added to the panel for R289 Mucolipidosis II and III Alpha/Beta with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:38 p.m. | Last Modified: 30 Jun 2023, 2:38 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mucolipidosis II alpha/beta, OMIM:252500
- Mucolipidosis III alpha/beta, OMIM:252600
- GNPTAB-mucolipidosis, MONDO:0100122
- OMIM
- 607840
- Clinvar variants
- Variants in GNPTAB
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal dysplasia
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- 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
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, OMIM:252500; Mucolipidosis III alpha/beta, OMIM:252600; GNPTAB-mucolipidosis, MONDO:0100122
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: GNPTAB was added gene: GNPTAB was added to Mucolipidosis II and III Alpha/Beta. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal