Genomics England

FARS2

phenylalanyl-tRNA synthetase 2, mitochondrial

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurometabolic disorder due to FARS2 deficiency
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 14, 614946
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 77, autosomal recessive, 617046
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 77, autosomal recessive, 617046, Combined oxidative phosphorylation deficiency 14, 614946
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Combined oxidative phosphorylation deficiency 14, 614946
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 14, 614946
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 14, 614946, Spastic paraplegia 77, autosomal recessive, 617046