Genomics England

3-hydroxyanthranilate 3,4-dioxygenase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NAD deficiency disorder
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 617660
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 Multiple congenital malformations, VACTERL-like phenotype
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.57	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple congenital malformations, VACTERL-like phenotype
Green in Unexplained young onset end-stage renal disease - additional genes Component of the following Super Panels: - Unexplained young onset end-stage renal disease Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660