Genomics England

GUSB

glucuronidase beta

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7 253220
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis VII, OMIM:253220
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis VII, 253220, MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7)
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7, Mucopolysaccharidosis VII, 253220, MPS VII, Sly disease (MPS IV, Morquio disease), Mucopolysaccharidosis Type VII, Mucopolysaccharidosis, Type VII
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis VII OMIM:253220, mucopolysaccharidosis type 7 MONDO:0009662
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MPS VII, Sly disease (MPS IV, Morquio disease), Mucopolysaccharidosis VII, 253220, MUCOPOLYSACCHARIDOSIS TYPE 7, syndromic HCM, Mucopolysaccharidosis Type VII, Mucopolysaccharidosis, Type VII
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis VII 253220