Rhabdomyolysis and metabolic muscle disorders
Gene: FLAD1
The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:42 a.m.
Panel Version: 3.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.Created: 23 Aug 2023, 12:23 p.m. | Last Modified: 23 Aug 2023, 12:23 p.m.
Panel Version: 3.14
FLAD1 gene encodes flavin adenine dinucleotide synthetase enzyme and it has been associated with lipid storage myopathy in OMIM (MIM #255100).
This gene also has green rating in Rhabdomyolysis and Metabolic Myopathy panel from PanelApp Australia (https://panelapp.agha.umccr.org/panels/3084/gene/FLAD1/) based on the evidence of more than 10 families reported in literature.
Sources: Expert list, Expert ReviewCreated: 23 Aug 2023, 12:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100
Tag Q3_23_promote_green was removed from gene: FLAD1. Tag Q3_23_NHS_review was removed from gene: FLAD1.
Source Expert Review Green was added to FLAD1. Source NHS GMS was added to FLAD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: flad1 has been classified as Amber List (Moderate Evidence).
Gene: flad1 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: FLAD1. Tag Q3_23_NHS_review tag was added to gene: FLAD1.
gene: FLAD1 was added gene: FLAD1 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review 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, OMIM:255100 Review for gene: FLAD1 was set to GREEN