Genomics England

MTFMT

mitochondrial methionyl-tRNA formyltransferase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MTFMT-related mitochondrial disease with regression and lactic acidosis
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15, OMIM:614947, Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947, combined oxidative phosphorylation defect type 15 MONDO:0013987, Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248, mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Combined oxidative phosphorylation deficiency 15, OMIM:614947