Rhabdomyolysis and Metabolic Myopathy
Gene: FLAD1
>10 families reportedCreated: 14 Feb 2022, 2:28 a.m. | Last Modified: 14 Feb 2022, 2:28 a.m.
Panel Version: 0.10953
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Publications
Variants in this GENE are reported as part of current diagnostic practice
Myopathy is a feature of the condition. At least 7 families reported and onset is variable with adult onset reported.
Sources: Expert listCreated: 29 May 2020, 1:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Gene: flad1 has been classified as Green List (High Evidence).
Gene: flad1 has been classified as Green List (High Evidence).
gene: FLAD1 was added gene: FLAD1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 34454814; 34718578; 31392824; 30982706; 30311138; 30427553; 28433476; 27259049; 25058219 Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100