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  2. Rhabdomyolysis and Metabolic Myopathy
  3. FLAD1
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Rhabdomyolysis and Metabolic Myopathy

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 families reported
Created: 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

Created: 14 Feb 2022, 2:28 a.m.
Last Modified: 14 Feb 2022, 2:28 a.m.
Panel version: Imported from Myopathy - adult onset panel version Imported from Mendeliome panel version 0.10953

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Myopathy is a feature of the condition. At least 7 families reported and onset is variable with adult onset reported.
Sources: Expert list
Created: 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

Created: 29 May 2020, 1:28 a.m.

Panel version: Imported from Myopathy - adult onset panel version 0.59

Details

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

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flad1 has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: flad1 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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