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Fetal anomalies

Gene: FLAD1

Red List (low 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)

Red List (low evidence)

Not detectable antenatally
Created: 14 Feb 2022, 2:27 a.m. | Last Modified: 14 Feb 2022, 2:27 a.m.
Panel Version: 0.3396

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100

Publications

  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

15 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: flad1 has been classified as Red List (Low Evidence).

15 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FLAD1 were changed from Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100

15 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FLAD1 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FLAD1 was added gene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.