Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: TOMM7

Amber List (moderate evidence)

TOMM7 (translocase of outer mitochondrial membrane 7)
EnsemblGeneIds (GRCh38): ENSG00000196683
EnsemblGeneIds (GRCh37): ENSG00000196683
OMIM: 607980, Gene2Phenotype
TOMM7 is in 2 panels

3 reviews

Eleanor Williams (Genomics England)

3rd case reported in PMID: 39333057 Yeole et al 2024. 4-month-old child with homozgyous splice variant c.153-2A > C in TOMM7. The clinical phenotype was neonatal-onset hypotonia, lactic acidosis, optic atrophy, and neuroimaging findings suggestive of Leigh disease. A similarly affected sibling (no genomic analysis) died at 52 days. Parents were heterozygous for the variant, and analysis of cDNA in the mother identified the presence of shorter transcripts.
Created: 30 Oct 2024, 11:25 p.m. | Last Modified: 30 Oct 2024, 11:25 p.m.
Panel Version: 1.2073

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.
Created: 3 Nov 2022, 3:15 a.m. | Last Modified: 3 Nov 2022, 3:15 a.m.
Panel Version: 1.436

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Garg-Mishra progeroid syndrome, MIM# 620601

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Created: 10 Oct 2022, 6:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Garg-Mishra progeroid syndrome, MIM# 620601
OMIM
607980
Clinvar variants
Variants in TOMM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOMM7 were changed from Inborn mitochondrial disorder MONDO:0004069, TOMM7-related to Garg-Mishra progeroid syndrome, MIM# 620601

3 Nov 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148

10 Oct 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TOMM7 were changed from growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911 to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related

10 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tomm7 has been classified as Amber List (Moderate Evidence).

10 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tomm7 has been classified as Amber List (Moderate Evidence).

10 Oct 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TOMM7 was added gene: TOMM7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148 Phenotypes for gene: TOMM7 were set to growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy MONDO:0014911 Review for gene: TOMM7 was set to AMBER