Likely inborn error of metabolism

Gene: TAMM41

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: TAMM41 has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/TAMM41/) as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update.

Created: 10 Jun 2025, 10:02 a.m. | Last Modified: 10 Jun 2025, 10:02 a.m.

Panel Version: 8.51

Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.

Created: 11 Dec 2023, 3:03 p.m. | Last Modified: 11 Dec 2023, 3:03 p.m.

Panel Version: 4.115

PMID:35321494 reported three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. They were identified with compound heterozygous variants in TAMM41 gene. In addition, tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models.

Created: 11 Dec 2023, 3:01 p.m. | Last Modified: 11 Dec 2023, 3:01 p.m.

Panel Version: 4.113

Phenotypes
Combined oxidative phosphorylation deficiency 56, OMIM:620139

Publications

• 35321494

Green List (high evidence)

PMID: 35321494 (2022) report three unrelated individuals with mitochondrial disease and compound heterozygous variants in this gene + functional studies
Sources: Literature

Created: 4 Dec 2023, 1:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 56

Publications

• 35321494