GNPTAB

N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
OMIM: 607840, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green GNPTAB in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.2	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta
Red GNPTAB in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	Not set	Sources Emory Genetics Laboratory
Green GNPTAB in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta I-cell disease
Green GNPTAB in Lysosomal storage disorder Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Mucolipidosis II alpha/beta OMIM:252500 mucolipidosis type II MONDO:0009650 Mucolipidosis III alpha/beta OMIM:252600 mucolipidosis type III MONDO:0018931
Green GNPTAB in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Expert list Phenotypes Mucolipidosis III alpha/beta 252600 Mucolipidosis II alpha/beta 252500
Green GNPTAB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucolipidosis II, I-cell disease (Other lysosomal disorders) Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta
Green GNPTAB in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mucolipidosis, Type II Mucolipidosis, Type III Alpha/Beta Mucolipidosis III alpha/beta Mucolipidosis II, I-cell disease (Other lysosomal disorders) Mucolipidosis II alpha/beta
Green GNPTAB in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A
Green GNPTAB in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes 252500 Mucolipidosis II alpha/beta(I cell disease) 252500
Red GNPTAB in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes I-cell disease (Mucolipidosis Type II)
Green GNPTAB in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II 252500 MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600
Green GNPTAB in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II (MLII)
Red GNPTAB in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS
Red GNPTAB in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green GNPTAB in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mucolipidosis III alpha/beta, 252600 Mucolipidosis II alpha/beta, 252500
Green GNPTAB in Mucolipidosis II and III Alpha or Beta Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green