Mitochondrial disorders
Gene: TAMM41
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
PMID: 35321494 (2022) report three unrelated individuals with mitochondrial disease and compound heterozygous variants in this gene + functional studies
Sources: LiteratureCreated: 4 Dec 2023, 1:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 56
Publications
Tag Q4_23_promote_green tag was added to gene: TAMM41. Tag Q4_23_NHS_review tag was added to gene: TAMM41.
Gene: tamm41 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency 56 to Combined oxidative phosphorylation deficiency 56, OMIM:620139
gene: TAMM41 was added gene: TAMM41 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494 Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency 56 Review for gene: TAMM41 was set to GREEN