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Fetal anomalies

Gene: FARS2

Red List (low evidence)

FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000145982
EnsemblGeneIds (GRCh37): ENSG00000145982
OMIM: 611592, Gene2Phenotype
FARS2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically postnatal.
Created: 2 Dec 2019, 7:38 p.m. | Last Modified: 17 Feb 2022, 7:23 a.m.
Panel Version: 0.3634

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 14, MIM#614946

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, MIM#614946
OMIM
611592
Clinvar variants
Variants in FARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fars2 has been classified as Red List (Low Evidence).

17 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FARS2 were changed from Neurometabolic disorder due to FARS2 deficiency to Combined oxidative phosphorylation deficiency 14, MIM#614946

17 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FARS2 was added gene: FARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FARS2 was set to Publications for gene: FARS2 were set to 28043061; 29326872; 27549011; 29126765; 27095821 Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency