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  3. TOMM7
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Fetal anomalies

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 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Amber on skeletal dysplasia and mitochondrial panels pending promotion to green. First reported in a 21-year-old man with progeria phenotype - severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy and homozygous p.Pro29Leu variant (PMID:36282599). Homozygous p.Pro29Leu subsequently reported in nine patients from seven families with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, and moyamoya disease (PMID:39615461). p.Pro29Leu is a rare variant in the East Asian population in gnomAD. Further patient with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay and homozygous p.Trp25Arg; Tomm7 knockout and homozygous Tomm7 p.Trp25Arg knock-in mice recapitulated human phenotypes (PMID: 36299998). Splice variant c.153-2A>C reported in a 4-month-old with neonatal-onset hypotonia, lactic acidosis, optic atrophy, and neuroimaging findings suggestive of Leigh disease (PMID: 39333057) - may be different presentation than missense variants. NB Very small protein, 55aa, NMD escape predicted to occur for any variant introducing a premature stop codon. Severe phenotypes but all patients have presented postnatally, unclear if poor growth or skeletal/craniofacial abnormalities may present prenatally. In PMID 39615461, IUGR reported in proband 3 but normal birthweight in proband 2. Mouse model shows initially normal postnatal growth followed by rapid weight loss and death (PMID: 36299998).
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Garg-Mishra progeroid syndrome, MIM#620601

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

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

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TOMM7 was added gene: TOMM7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to 36282599; 36299998 Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601