Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Early onset or syndromic epilepsy v2.491 DDC Sarah Leigh Tag for-review was removed from gene: DDC.
Early onset or syndromic epilepsy v2.491 DDC Sarah Leigh commented on gene: DDC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v2.490 DDC Sarah Leigh Source Expert Review Green was added to DDC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v2.224 DDC Arina Puzriakova Phenotypes for gene: DDC were changed from Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Early onset or syndromic epilepsy v2.144 DDC Sarah Leigh Classified gene: DDC as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.144 DDC Sarah Leigh Added comment: Comment on list classification: This is a metabolic gene and is green on the Inborn errors of metabolism (https://panelapp.genomicsengland.co.uk/panels/467/gene/DDC/), therefore it is rated as amber on the Genetic epilepsy syndromes panel.
Early onset or syndromic epilepsy v2.144 DDC Sarah Leigh Gene: ddc has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.143 DDC Sarah Leigh Tag for-review tag was added to gene: DDC.
Early onset or syndromic epilepsy v2.93 DDC Lothar Schlueter edited their review of gene: DDC: Changed publications: 28100251, 30952622, 20505134, 19172410, 32369189, 18754761, 32409695
Early onset or syndromic epilepsy v2.93 DDC Lothar Schlueter changed review comment from: Seizures are not a key symptom for aromatic L-amino acid decarboxylase deficiency (AADCD). However, some patients have seizures. Oculogyric crises, which are a key symptom, could be mistaken for epileptic seizures. In the review paper of Wassenberg et al. (2017) about 8% of AADCD patients suffer from seizures (9/117). Manegold et al. (2009) found 3 patients with seizures and corresponding EEG abnormalities in a cohort of 9 patients. They also point out, that it was difficult to discriminate seizures from oculogyric crises and paroxysmal dystonia. Another review by Brun et al. (2010) mentions abnormal EEG in 10 out of 78 patients without further detail about seizures.
Sources: Literature; to: Seizures are not a key symptom for aromatic L-amino acid decarboxylase deficiency (AADCD). However, some patients have seizures. Oculogyric crises, which are a key symptom, could be mistaken for epileptic seizures. In the review paper of Wassenberg et al. (2017) about 8% of AADCD patients suffer from seizures (9/117). Manegold et al. (2009) found 3 patients with seizures and corresponding EEG abnormalities in a cohort of 9 patients. They also point out, that it was difficult to discriminate seizures from oculogyric crises and paroxysmal dystonia. Another review by Brun et al. (2010) mentions abnormal EEG in 10 out of 78 patients without further detail about seizures. In recent cohort analysis they concluded that about 30% of AADCD patients have been initially diagnosed with epilepsy (Pearson et al.2020, Wen et al. 2020)
Sources: Literature

Update: Added more literature
Early onset or syndromic epilepsy v2.3 DDC Lothar Schlueter gene: DDC was added
gene: DDC was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 28100251; 30952622; 20505134; 19172410
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency 608643; floppy child; dystonia; hypotonia; developmental delay; oculogyric crisis
Review for gene: DDC was set to GREEN
Added comment: Seizures are not a key symptom for aromatic L-amino acid decarboxylase deficiency (AADCD). However, some patients have seizures. Oculogyric crises, which are a key symptom, could be mistaken for epileptic seizures. In the review paper of Wassenberg et al. (2017) about 8% of AADCD patients suffer from seizures (9/117). Manegold et al. (2009) found 3 patients with seizures and corresponding EEG abnormalities in a cohort of 9 patients. They also point out, that it was difficult to discriminate seizures from oculogyric crises and paroxysmal dystonia. Another review by Brun et al. (2010) mentions abnormal EEG in 10 out of 78 patients without further detail about seizures.
Sources: Literature