MTFMT

mitochondrial methionyl-tRNA formyltransferase
OMIM: 611766, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MTFMT in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 15, OMIM:614947
Green MTFMT in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list 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 MTFMT in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 MTFMT in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 15 614947 Mitochondrial complex I deficiency, nuclear type 27 618248
Green MTFMT in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green London North GLH NHS GMS Victorian Clinical Genetics Services 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 MTFMT in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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 MTFMT in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 15, OMIM:614947 Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
Green MTFMT in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature 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 MTFMT in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Expert list Expert 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 MTFMT in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH 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 MTFMT in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list 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