Genomics England

GALNT3

polypeptide N-acetylgalactosaminyltransferase 3

Panel	Mode of inheritance	Details
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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 Tumoral calcinosis, hyperphosphatemic, familial 211900, Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)
Green in Familial tumoral calcinosis R-numbers: R162 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
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 Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies), Tumoral calcinosis, hyperphosphatemic, familial 211900
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HFTC1, Familial tumoural calcinosis, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900, Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 211900