Genomics England

BTD

biotinidase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BIOTINIDASE DEFICIENCY 253260
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.54	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Biotinidase deficiency 253260
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BIOTINIDASE DEFICIENCY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Biotinidase deficiency, 253260, BIOTINIDASE DEFICIENCY
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 Biotinidase deficiency (Disorders of biotin metabolism), Biotinidase deficiency, lactic acidosis with seizures and eczema,immune deficiency
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Biotinidase deficiency, OMIM:253260, optic atrophy, MONDO:0003608
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Biotinidase deficiency, 253260