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| BabyScreen+ newborn screening v1.114 | FLAD1 | Tommy Li Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 for gene: FLAD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | FLAD1 | Zornitza Stark Tag metabolic tag was added to gene: FLAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.661 | FLAD1 | Zornitza Stark Tag for review was removed from gene: FLAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.661 | FLAD1 |
Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment. For discussion. Included as a treatable disorder in rx-genes. Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis,; to: Well established gene-disease association, more than 10 families reported. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment. Included as a treatable disorder in rx-genes. Confirmatory non-genetic testing: Plasma acylcarnitine profile, Urine organic acid analysis, |
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| BabyScreen+ newborn screening v0.584 | FLAD1 | Zornitza Stark Marked gene: FLAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.584 | FLAD1 | Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.584 | FLAD1 | Zornitza Stark Publications for gene: FLAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | FLAD1 |
Zornitza Stark Tag for review tag was added to gene: FLAD1. Tag treatable tag was added to gene: FLAD1. |
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| BabyScreen+ newborn screening v0.583 | FLAD1 | Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.583 | FLAD1 | John Christodoulou reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 |
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