| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Marked gene: ECHS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Classified gene: ECHS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.19 | ECHS1 |
Zornitza Stark gene: ECHS1 was added gene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 31399326; 25125611; 25393721 Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Review for gene: ECHS1 was set to GREEN Added comment: Assessed as Definitive by the ClinGen FAOD working group. Sources: Expert list |
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