MTRFR

mitochondrial translation release factor in rescue
OMIM: 613541, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MTRFR in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green MTRFR in Optic Atrophy Level 2: Ophthalmological disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 7 Spastic paraplegia 55, autosomal recessive Tags new gene name
Green MTRFR in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green MTRFR in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MTRFR in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MTRFR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes hereditary spastic paraplegia 55 MONDO:0014020
Green MTRFR in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, 615035 optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy Combined oxidative phosphorylation deficiency 7, 613559 Tags new gene name
Green MTRFR in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 HMSN Tags new gene name
Green MTRFR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 7, 613559 (3)
Red MTRFR in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 7, MIM# 613559 Spastic paraplegia 55, autosomal recessive, MIM# 615035
Green MTRFR in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 7, MIM# 613559 Spastic paraplegia 55, autosomal recessive, MIM#615035 Tags new gene name