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  2. Childhood onset dystonia, chorea or related movement disorder
  3. MTFMT
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Childhood onset dystonia, chorea or related movement disorder

Gene: MTFMT

Green List (high evidence)
MTFMT (mitochondrial methionyl-tRNA formyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 11 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
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
OMIM
611766
Clinvar variants
Variants in MTFMT
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248 to 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

9 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27 to Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27, 618248

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MTFMT was added gene: MTFMT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: MTFMT was set to