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Rhabdomyolysis and metabolic muscle disorders

Gene: FLAD1

Green List (high evidence)
FLAD1 (flavin adenine dinucleotide synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000160688
EnsemblGeneIds (GRCh37): ENSG00000160688
OMIM: 610595, Gene2Phenotype
FLAD1 is in 9 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Created: 11 Oct 2023, 11:17 a.m.
Last Modified: 11 Oct 2023, 11:42 a.m.
Panel version: 3.37

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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 Review
Created: 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

Created: 23 Aug 2023, 12:23 p.m.

Panel version: 3.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, OMIM:255100
OMIM
610595
Clinvar variants
Variants in FLAD1
Penetrance
None
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: FLAD1. Tag Q3_23_NHS_review was removed from gene: FLAD1.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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)

23 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: flad1 has been classified as Amber List (Moderate Evidence).

23 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: flad1 has been classified as Amber List (Moderate Evidence).

23 Aug 2023, Gel status: 1

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: FLAD1. Tag Q3_23_NHS_review tag was added to gene: FLAD1.

23 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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