20 Nov 2020
Early onset dystonia v1.85
DDC
Arina Puzriakova Phenotypes for gene: DDC were changed from Dystonia to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084; Floppy child; Dystonia; Hypotonia; Developmental delay; Oculogyric crisis
20 Nov 2020
Early onset dystonia v1.84
DDC
Arina Puzriakova Publications for gene: DDC were set to
20 Nov 2020
Early onset dystonia v1.83
DDC
Arina Puzriakova Mode of inheritance for gene: DDC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Nov 2020
Early onset dystonia v1.82
DDC
Arina Puzriakova Classified gene: DDC as Green List (high evidence)
20 Nov 2020
Early onset dystonia v1.82
DDC
Arina Puzriakova Added comment: Comment on list classification: Upgraded rating from Red to Green, in line with the review by Lothar Schlueter. Dystonia as a feature of the phenotype, most commonly arising in infancy. DDC is already Green on the GMS 'Childhood onset dystonia or chorea or related movement disorder' version 1.62 panel.
20 Nov 2020
Early onset dystonia v1.82
DDC
Arina Puzriakova Gene: ddc has been classified as Green List (High Evidence).
25 Feb 2020
Early onset dystonia v1.81
DDC
Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal