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| Early onset or syndromic epilepsy v2.491 | CARS2 | Sarah Leigh Tag for-review was removed from gene: CARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.491 | CARS2 | Sarah Leigh commented on gene: CARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.490 | CARS2 |
Sarah Leigh Source Expert Review Green was added to CARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.176 | CARS2 | Arina Puzriakova Classified gene: CARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.176 | CARS2 |
Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to support a gene-disease association. This gene has been added with an Amber rating but should be promoted to Green at the GMS panel update (added 'for-review' tag). Note this is a metabolic gene and is already Green on the Inborn errors of metabolism (v2.3) panel. |
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| Early onset or syndromic epilepsy v2.176 | CARS2 | Arina Puzriakova Gene: cars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.175 | CARS2 |
Arina Puzriakova gene: CARS2 was added gene: CARS2 was added to Genetic epilepsy syndromes. Sources: Literature for-review tags were added to gene: CARS2. Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS2 were set to 25361775; 25787132; 30139652; 32571458; 32348839 Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 Review for gene: CARS2 was set to GREEN Added comment: Associated with phenotype in OMIM and as a probable gene for Epileptic encephalopathy with complex movement disorder and regression in Gen2Phen. At least 6 individuals from 5 unrelated families, all with different biallelic variants in CARS2 and a neurodegenerative disorder which includes early-onset seizures. Sources: Literature |
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