Mitochondrial disorders
Gene: TEFM
Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available (five unrelated families) for the association of this gene with green rating in the next GMS review.Created: 11 Dec 2023, 3:48 p.m. | Last Modified: 11 Dec 2023, 3:48 p.m.
Panel Version: 4.117
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 58, OMIM:620451
Publications
PMID: 36823193 (2023) report seven TEFM variants (four missense, two frameshift and one in-frame 2-amino acid deletion) in seven individuals from five unrelated families who present with mitochondrial respiratory chain deficiency and a wide range of infantile or childhood-onset neurological and neuromuscular symptoms, due to abnormal mitochondrial transcription. Zebrafish model as well
Sources: LiteratureCreated: 4 Dec 2023, 1:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 58
Publications
Gene: tefm has been classified as Amber List (Moderate Evidence).
Gene: tefm has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: TEFM. Tag Q4_23_NHS_review tag was added to gene: TEFM.
Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58 to Combined oxidative phosphorylation deficiency 58, OMIM:620451
gene: TEFM was added gene: TEFM was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58 Review for gene: TEFM was set to GREEN