B4GAT1

beta-1,4-glucuronyltransferase 1
OMIM: 605517, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green B4GAT1 in Hydrocephalus Level 2: Neurology Version 5.18 Latest signed off version: v5.14 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Green B4GAT1 in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Red B4GAT1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.13 Latest signed off version: v8.5 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
Green B4GAT1 in Malformations of cortical development Level 2: Neurology Version 8.8 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Cerebral malformation Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Green B4GAT1 in Congenital muscular dystrophy Level 2: Neurology Version 7.27 Latest signed off version: v7.26 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Green B4GAT1 in Arthrogryposis Level 2: Neurology Version 10.23 Latest signed off version: v10.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Green B4GAT1 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Green B4GAT1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
Red B4GAT1 in Hereditary ataxia, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Muscular dystrophy-dystroglycanopathy type A13, 615287
Red B4GAT1 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH