TUFM:Ensemblv115

Tu translation elongation factor, mitochondrial
OMIM: 602389, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TUFM in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TUFM in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, MIM# 610678
  • Mitochondrial Leukoencephalopathy

Green TUFM in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, 610678 (3)

Green TUFM in Fetal anomalies


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, MIM #610678

Green TUFM in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, 610678 (3)