Genomics England

IDUA

iduronidase, alpha-L-

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015, MUCOPOLYSACCHARIDOSIS TYPE 1S 607016, MUCOPOLYSACCHARIDOSIS TYPE 1H 607014
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H, MUCOPOLYSACCHARIDOSIS TYPE 1H/S, MUCOPOLYSACCHARIDOSIS TYPE 1S
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015, MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S)
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hurler syndrome, Mucopolysaccharidosis type 1H/S, MPS I, Hurler, Scheie disease (Mucopolysaccharidoses), Scheie syndrome, Hurler-Scheie syndrome, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis Ih/s, 607015, Mucopolysaccharidosis, Type I, Mucopolysaccharidosis Is, 607016, Mucopolysaccharidosis Ih, 607014
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis Ih OMIM:607014, Hurler syndrome MONDO:0011758, Mucopolysaccharidosis Is OMIM:607016, Scheie syndrome MONDO:0011760, Mucopolysaccharidosis Ih/s OMIM:607015, Hurler-Scheie syndromeMONDO:0011759
Green in Mucopolysaccharidosis type IH or S R-numbers: R277 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
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 3.44	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MPS I, Hurler, Scheie disease (Mucopolysaccharidoses), Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis Is, 607016, Hurler syndrome, Mucopolysaccharidosis Ih/s, 607015, Scheie syndrome, Mucopolysaccharidosis, Type I, Hurler-Scheie syndrome, Mucopolysaccharidosis Ih, 607014, Mucopolysaccharidosis type 1H
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 4.177	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 607016, Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014, 607014
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Is 607016, Mucopolysaccharidosis Ih/s 607015