Mitochondrial disorders
Gene: TUFMEnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 10 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least four unrelated cases.Created: 25 Apr 2019, 4:03 p.m.
Zornitza Stark (Australian Genomics)
Multiple unrelated individuals with bi-allelic variants in this gene reported in the literature.Created: 1 Sep 2018, 5:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 4, MIM#610678
Publications
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Sourced from G2P.Created: 2 Mar 2016, 2:18 p.m.
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4.
Created: 2 Mar 2016, 2:17 p.m.
This gene was submitted as "EFTU" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:39 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 4 610678
- OMIM
- 602389
- Clinvar variants
- Variants in TUFM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tufm has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: TUFM were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 4, 610678 to Combined oxidative phosphorylation deficiency 4 610678
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TUFM were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TUFM. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TUFM was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TUFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)TUFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)TUFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen