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Genetic Epilepsy

Gene: DDC

Green List (high evidence)

DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures are rare but oculogyric crises, a key feature of this disorder, can be mistaken for seizures. Included for completeness.
Sources: Expert list
Created: 24 Aug 2023, 5:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aromatic L-amino acid decarboxylase deficiency, MIM# 608643

History Filter Activity

24 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddc has been classified as Green List (High Evidence).

24 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddc has been classified as Green List (High Evidence).

24 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDC was added gene: DDC was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Review for gene: DDC was set to GREEN