Genomics England

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital Muscular Dystrophy, alpha-dystroglycan related, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840, N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, OMIM:608840
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154, Muscle-eye-brain disease, MDDGA6, Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840, congenital muscular dystrophy-dystroglycanopathy with mental retardation, MDDGB6, Intellectual disability
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154, N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscle-eye-brain disease