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Newborns main panel

Gene: DDC

Green List (high evidence)
DDC (dopa decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000132437
EnsemblGeneIds (GRCh37): ENSG00000132437
OMIM: 107930, Gene2Phenotype
DDC is in 11 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:2719
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DDC were changed from Aromatic amino acid decarboxylase deficiency to Aromatic L-amino acid decarboxylase deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Aromatic amino acid decarboxylase deficiency for gene: DDC

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DDC. Added phenotypes Aromatic amino acid decarboxylase deficiency for gene: DDC Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DDC. Added phenotypes Aromatic amino acid decarboxylase deficiency for gene: DDC Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to DDC. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Aromatic amino acid decarboxylase deficiency for gene: DDC

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DDC was added gene: DDC was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal