Genomics England

DDC

dopa decarboxylase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643, Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084