| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fatty Acid Oxidation Defects v1.12 | FLAD1 | Bryony Thompson Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.11 | FLAD1 | Bryony Thompson Classified gene: FLAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.11 | FLAD1 | Bryony Thompson Added comment: Comment on list classification: ClinGen FAOD GCEP upgraded the classification of the gene-disease association to DEFINITIVE on 16/12/2020, adding new evidence from the following publications PMIDs: 30061063, 30982706, 30311138, 31392824, 30427553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.11 | FLAD1 | Bryony Thompson Gene: flad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Marked gene: FLAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Classified gene: FLAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v0.21 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505 Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 Review for gene: FLAD1 was set to AMBER Added comment: Classified as moderate by ClinGen. The classification for FLAD1 was based on eight cases from the literature harbouring mostly frameshift variants in exons 1 or 2, biochemical studies and in vitro studies. Many of the frameshift variants in FLAD1 were predicted to be loss-of-function. However, Olsen et al. noted that homozygous loss-of-function variants in FLAD1 would be unlikely as FLAD1 encodes the only known enzyme to catalyze the synthesis of flavin adenine dinucleotide (FAD) from flavin mononucleotide (FMN), an essential metabolic process. This led the authors to discover previously unknown isoforms that were residually expressed in these patients. Therefore, ClinGen downgraded points for each of these variants to the default points for non-loss-of-function variants, resulting in the 'Moderate' assessment. Sources: Expert list |
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