Likely inborn error of metabolism - targeted testing not possible
Gene: DDC
The neurometabolic transmitter disorder aromatic L-amino acid decarboxylase deficiency (AADCD) is caused by variants in the DDC gene. So far, in 123 known patients, 79 disease-causing variants have been described and listed in the locus specific database PNDdb (http://biopku.org/home/pnddb.asp) (Himmelreich, 2019).Created: 25 Feb 2020, 1:14 p.m. | Last Modified: 25 Feb 2020, 1:14 p.m.
Panel Version: 2.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis
Publications
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 17 Jan 2017, 3:07 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability
Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency 608643 to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency to Aromatic L-amino acid decarboxylase deficiency 608643
Publications for gene: DDC were set to 27604308; 24816252
Source NHS GMS was added to DDC. Source London North GLH was added to DDC.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: DDC was added gene: DDC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDC were set to 27604308; 24816252 Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency