| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Marked gene: ACADSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Classified gene: ACADSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.7 | ACADSB |
Bryony Thompson gene: ACADSB was added gene: ACADSB was added to Fatty Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 11013134; 17945527; 30730842 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006 Review for gene: ACADSB was set to GREEN Added comment: The enzyme catalyses the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. SBCAD deficiency is symptomatic in about 10% of reported patients. Sources: Expert list |
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