Leukodystrophy - paediatric
Gene: TUFMEnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Leukodystrophy specifically reported with this mitochondrial disorder.Created: 16 Sep 2020, 5:28 a.m. | Last Modified: 16 Sep 2020, 5:28 a.m.
Panel Version: 0.194
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 4, MIM# 610678
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 4, MIM# 610678
- Mitochondrial Leukoencephalopathy
- OMIM
- 602389
- Clinvar variants
- Variants in TUFM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tufm has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TUFM were changed from Mitochondrial Leukoencephalopathy to Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mitochondrial Leukoencephalopathy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TUFM were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TUFM was added gene: TUFM was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy