MTFMT

mitochondrial methionyl-tRNA formyltransferase
OMIM: 611766, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green MTFMT in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Green MTFMT in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Green MTFMT in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MTFMT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Green MTFMT in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 MIM#614947 Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Green MTFMT in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 15 22499348 23499752 614947
Green MTFMT in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 15, 614947 (3)
Green MTFMT in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh Syndrome MONDO:0009723
Green MTFMT in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 15, 614947 (3)