B4GALNT1

beta-1,4-N-acetyl-galactosaminyltransferase 1
OMIM: 601873, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green B4GALNT1 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive, OMIM:609195 Hereditary spastic paraplegia 26, MONDO:0012213
Green B4GALNT1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 26, autosomal recessive
Green B4GALNT1 in Childhood onset hereditary spastic paraplegia Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 26, autosomal recessive, 609195
Green B4GALNT1 in Adult onset hereditary spastic paraplegia Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 26, autosomal recessive, 609195
Red B4GALNT1 in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 26, autosomal recessive
Green B4GALNT1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive, OMIM:609195 Hereditary spastic paraplegia 26, MONDO:0012213
Green B4GALNT1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 SPG26 Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Green B4GALNT1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Phenotypes Spastic paraplegia 26, autosomal recessive OMIM:609195 hereditary spastic paraplegia 26 MONDO:0012213
Amber B4GALNT1 in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy Spastic paraplegia 26, autosomal recessive, 609195 SPG26 Tags Q2_24_promote_green Q2_24_NHS_review
Green B4GALNT1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 26, autosomal recessive, 609195