GALNT12

polypeptide N-acetylgalactosaminyltransferase 12
OMIM: 610290, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red GALNT12 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Literature Phenotypes {Colorectal cancer, susceptibility to, 1} 608812 GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Red GALNT12 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	Unknown	Sources Expert Review Red Literature Phenotypes GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812 (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies))
Red GALNT12 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Red Phenotypes (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) {Colorectal cancer, susceptibility to, 1} 608812