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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 31392824 - 1 case PMID: 30982706 - 1 case PMID: 27259049 - 7 families PMID: 30311138 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to FLAD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FLAD1. Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency for gene: FLAD1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FLAD1. Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency for gene: FLAD1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to FLAD1. Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency for gene: FLAD1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FLAD1. Added phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency for gene: FLAD1 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: FLAD1 was added gene: FLAD1 was added to Newborns main panel. Sources: Expert Review Removed 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