HGSNAT

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green HGSNAT in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657
Green HGSNAT in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687
Green HGSNAT in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687
Green HGSNAT in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657
Green HGSNAT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657
Green HGSNAT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930
Green HGSNAT in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 73
Green HGSNAT in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 73
Green HGSNAT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Amber HGSNAT in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Amber NHS GMS Phenotypes MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IIIC Mucopolysaccharidosis, Type III Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Retinitis Pigmentosa 73
Green HGSNAT in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis IIIC
Red HGSNAT in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657
Green HGSNAT in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Red HGSNAT in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
Green HGSNAT in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)