{{Rsnum
|rsid=34002892
|Orientation=minus
|geno1=(-;-)
|geno2=(-;TC)
|geno3=(TC;TC)
|Chromosome=12
|position=101753470
|Gene=GNPTAB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GNPTAB
}}{{omim
|desc=N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
|id=607840
|rsnum=34002892
}}

{{ClinVar
|ALT=T
|CHROM=12
|CLNACC=RCV000002899.1; RCV000002900.2; RCV000082192.1
|CLNALLE=1
|CLNDBN=I cell disease; Pseudo-Hurler polydystrophy; not provided
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1828:NBK1875:C2673377:252500:576; NBK1828:NBK1875:C0033788:252600:577:65764006
|CLNHGVS=NC_000012.11:g.102147248_102147249delGA
|CLNSIG=5
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNSRCID=NBK1828; NBK1875; 607840.0011
|Disease=I cell disease; Pseudo-Hurler polydystrophy; not provided
|FwdREF=TC
|GENEINFO=GNPTAB:79158
|GENE_ID=79158
|GENE_NAME=GNPTAB
|REF=TGA
|RSPOS=102147247
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;SLO;VLD;GNO;OTHERKG;LSD;OM
|VC=DIV
|VP=0x050168000000040102110200
|WGT=0
|dbSNPBuildID=126
|rsid=34002892
}}

{{PMID Auto
|PMID=16465621
|Title=Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.
|OA=1
}}

{{PMID Auto
|PMID=16630736
|Title=When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
}}

{{PMID Auto
|PMID=18190596
|Title=Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}