MTFMT

mitochondrial methionyl-tRNA formyltransferase
OMIM: 611766
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 2.3
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
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
R-numbers: R63
Signed-off version 2.2
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
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 15, 22499348, 614947, 23499752