GALNS

galactosamine (N-acetyl)-6-sulfatase
OMIM: 612222, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green GALNS 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 IVA, 253000 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVA MUCOPOLYSACCHARIDOSIS TYPE 4A
Red GALNS in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green GALNS in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVA MUCOPOLYSACCHARIDOSIS TYPE 4A Morquio disease type A
Green GALNS 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 IVA OMIM:253000 mucopolysaccharidosis type 4A MONDO:0009659
Green GALNS in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 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 Phenotypes Mucopolysaccharidosis IVA 253000
Green GALNS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MPS IVA, Morquio A disease (MPS IV, Morquio disease) Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVA MUCOPOLYSACCHARIDOSIS TYPE 4A
Green GALNS in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 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 4A Mucopolysaccharidosis Type IVA Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis, Type IV MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Green GALNS in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A
Green GALNS in DDG2P Version 6.438 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 4A 253000
Red GALNS in Intellectual disability Level 2: Developmental disorders Version 9.330 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 Red Expert Review Red Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A (MPS4A)
Red GALNS in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.98 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 NHS GMS Expert Review Red MetBioNet MetBioNet Phenotypes Mucopolysaccharidosis IVA, 253000 Mucopolysaccharidosis Type IVA MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis, Type IV MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Red GALNS in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green GALNS in Mucopolysaccharidosis type IVA Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis IVA, OMIM:253000 mucopolysaccharidosis type 4A, MONDO:0009659