1. Panels
  2. Mitochondrial disease
  3. TOMM70
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

Gene: TOMM70

Amber List (moderate evidence)
TOMM70 (translocase of outer mitochondrial membrane 70)
EnsemblGeneIds (GRCh38): ENSG00000154174
EnsemblGeneIds (GRCh37): ENSG00000154174
OMIM: 606081, Gene2Phenotype
TOMM70 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. One individual reported with compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)]. Clinical features included severe anaemia, lactic acidosis, and developmental delay. Some functional data: in vitro cell model compensatory experiments.
Sources: Literature
Created: 9 May 2020, 1:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe anaemia; Lactic acidosis; Developmental delay

Publications

Created: 9 May 2020, 1:27 a.m.

Panel version: 0.447

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe anaemia
  • Lactic acidosis
  • Developmental delay
OMIM
606081
Clinvar variants
Variants in TOMM70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOMM70 were set to

9 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tomm70 has been classified as Amber List (Moderate Evidence).

9 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tomm70 has been classified as Amber List (Moderate Evidence).

9 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TOMM70 was added gene: TOMM70 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: TOMM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOMM70 were set to Severe anaemia; Lactic acidosis; Developmental delay Review for gene: TOMM70 was set to AMBER