Genomics England

XYLT1

xylosyltransferase 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desbuquois dysplasia 2 615777
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes DESBUQUOIS DYSPLASIA 2, OMIM:615777, Baratela Scott Syndrome, OMIM:615777
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
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 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Desbuquois dysplasia 2, OMIM:615777, Desbuquois dysplasia 2, MONDO:0014343