1. Genes and Genomic Entities
  2. MTFMT

MTFMT

mitochondrial methionyl-tRNA formyltransferase
OMIM: 611766, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green MTFMT in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.15
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 8.67
    Latest signed off version: v8.0 (30 Apr 2025)

    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 1.186

    		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 1.643

    		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


    Level 2: Metabolic
    Version 8.98
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		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


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MTFMT-related mitochondrial disease with regression and lactic acidosis
    Green MTFMT in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		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