Genomics England

LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813, O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813, O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813