HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase
OMIM: 610453, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green HGSNAT in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIC Mucopolysaccharidosis Type III Retinitis Pigmentosa 73
Red HGSNAT in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green HGSNAT in Lysosomal storage disorder Level 2: Metabolic Version 3.5 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 Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930 Sanfilippo syndrome type C MONDO:0009657
Green HGSNAT in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Green HGSNAT in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type IIIC Mucopolysaccharidosis Type III Retinitis Pigmentosa 73
Green HGSNAT in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) 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 Mucopolysaccharidosis Type III Mucopolysaccharidosis, Type III Retinitis Pigmentosa 73 Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Mucopolysaccharidosis Type IIIC MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses)
Amber HGSNAT in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C
Green HGSNAT in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C 252930
Green HGSNAT in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C)
Green HGSNAT in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Retinitis pigmentosa 73
Amber HGSNAT in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS MetBioNet MetBioNet Phenotypes Mucopolysaccharidosis Type IIIC MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Retinitis Pigmentosa 73 Mucopolysaccharidosis, Type III Mucopolysaccharidosis Type III Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930
Red HGSNAT in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH