Genomics England

CHST14

carbohydrate sulfotransferase 14

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.102	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1, EDSMC1
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776, CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE
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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776, CHST14-CDG (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 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 601776