Activity

Filter

Panel

Version

Gene or Genomic Entity Name

Date from

Date to

Date	Panel	Item	Activity
Filter activities 6 actions
20 Nov 2020	Intellectual disability - microarray and sequencing v3.565	DDC	Arina Puzriakova Publications for gene: DDC were set to 20505134
20 Nov 2020	Intellectual disability - microarray and sequencing v3.564	DDC	Arina Puzriakova Phenotypes for gene: DDC were changed from AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
25 Feb 2020	Intellectual disability - microarray and sequencing v3.3	DDC	Lothar Schlueter reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100251, 30952622, 30689738, 25597765, 24788355; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643, floppy child, dystonia, hypotonia, developmental delay, oculogyric crisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Aug 2017	Intellectual disability - microarray and sequencing	DDC	BRIDGE consortium edited their review of DDC
27 Jul 2017	Intellectual disability - microarray and sequencing	DDC	BRIDGE consortium edited their review of DDC
19 Jul 2017	Intellectual disability - microarray and sequencing	DDC	BRIDGE consortium reviewed DDC