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Leukodystrophy - paediatric

Gene: TUFM

Green List (high evidence)

TUFM (Tu translation elongation factor, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000178952
EnsemblGeneIds (GRCh37): ENSG00000178952
OMIM: 602389, Gene2Phenotype
TUFM is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

16 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tufm has been classified as Green List (High Evidence).

16 Sep 2020, Gel status: 3

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

16 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUFM were set to

30 Dec 2019, Gel status: 3

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