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Rhabdomyolysis and metabolic muscle disorders

Gene: TAMM41

Green List (high evidence)
TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog)
EnsemblGeneIds (GRCh38): ENSG00000144559
EnsemblGeneIds (GRCh37): ENSG00000144559
OMIM: 614948, Gene2Phenotype
TAMM41 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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, 11:15 a.m. | Last Modified: 2 May 2024, 11:15 a.m.
Panel Version: 4.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 May 2024, 11:15 a.m.
Last Modified: 2 May 2024, 11:15 a.m.
Panel version: 4.3

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Created: 11 Dec 2023, 3:13 p.m. | Last Modified: 11 Dec 2023, 3:13 p.m.
Panel Version: 3.46
PMID:35321494 reported three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. Two of these three individuals were reported with myopathy (proximal and distal in one and proximal in other). 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.
Sources: Literature
Created: 11 Dec 2023, 3:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 56, OMIM:620139

Publications

Created: 11 Dec 2023, 3:12 p.m.

Panel version: 3.45

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 56, OMIM:620139
OMIM
614948
Clinvar variants
Variants in TAMM41
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: TAMM41.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to TAMM41. Source NHS GMS was added to TAMM41. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: tamm41 has been classified as Amber List (Moderate Evidence).

11 Dec 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: TAMM41.

11 Dec 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TAMM41 was added gene: TAMM41 was added to Rhabdomyolysis and metabolic muscle 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, OMIM:620139 Review for gene: TAMM41 was set to GREEN