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Intellectual disability

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 2 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: After consultation with the Genomics England clinical team it was decided to rate this gene as Amber for now, until a clearer phenotype is established and the predominant mode of inheritance is determined.
Created: 24 Jul 2020, 12:49 p.m. | Last Modified: 24 Jul 2020, 12:49 p.m.
Panel Version: 3.199
Not associated with a disease phenotype in OMIM or Gene2Phenotype

PMID: 31907385 - Wei et al 2020 - report a patient with severe anemia, lactic acidosis, and developmental delay in which two compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)] were identified. Functional studies showed that patient-derived cells exhibited multi-oxidative phosphorylation system (OXPHOS) complex defects. Abstract only accessed.

PMID: 32356556 - Dutta et al 2020 - report 2 patients with de novo heterozygous missense variants in the C-terminal region of TOMM70. Both patients had shared symptoms including hypotonia, hyper-reflexia, ataxia, dystonia and significant white matter abnormalities. Patient 1 showed severe global developmental delay. However, for patient 1 a neurodevelopmental disorder was noted in infancy, but patient 2 developed as normal until age 4 when neurological regression occurred. Some functional data from Drosophila show that the variants cause partial loss of function.

3 cases but different mode of inheritance and phenotypic presentation.
Sources: Literature
Created: 2 Jul 2020, 2:51 p.m. | Last Modified: 2 Jul 2020, 3 p.m.
Panel Version: 3.130

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Severe anaemia, lactic acidosis; developmental delay; white matter abnormalities

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe anaemia, lactic acidosis
  • developmental delay
  • white matter abnormalities
OMIM
606081
Clinvar variants
Variants in TOMM70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

2 Jul 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: TOMM70 was added gene: TOMM70 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TOMM70 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TOMM70 were set to 31907385; 32356556 Phenotypes for gene: TOMM70 were set to Severe anaemia, lactic acidosis; developmental delay; white matter abnormalities Review for gene: TOMM70 was set to AMBER