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  3. FLAD1
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Mitochondrial disease

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

1 review

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 Mendeliome panel version 0.10953

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
OMIM
610595
Clinvar variants
Variants in FLAD1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLAD1 was added gene: FLAD1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: FLAD1 was set to Unknown