Sarah Leigh Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15, 614947 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
Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MTFMT is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients who have different variants in this gene who have ID or developmental delay. Therefore, there is enough evidence to promote this gene to green status.