Ataxia and cerebellar anomalies - narrow panel
Gene: MTFMT
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in at least eight unrelated cases of Combined oxidative phosphorylation deficiency 15 OMIM:614947.Created: 27 Apr 2021, 3:29 p.m. | Last Modified: 27 Apr 2021, 3:29 p.m.
Panel Version: 2.139
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 27 Apr 2021, 3:24 p.m. | Last Modified: 27 Apr 2021, 3:24 p.m.
Panel Version: 2.139
Five unrelated cases reported with paediatric onset ataxia as a prominent feature of the condition.
Sources: Expert listCreated: 12 Sep 2020, 6:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: MTFMT.
Source Expert Review Green was added to MTFMT. Source NHS GMS was added to MTFMT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: MTFMT.
Gene: mtfmt has been classified as Amber List (Moderate Evidence).
Publications for gene: MTFMT were set to 26060307; 24461907
Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 to Combined oxidative phosphorylation deficiency 15 OMIM:614947; combined oxidative phosphorylation defect type 15 MONDO:0013987; Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248; mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631
gene: MTFMT was added gene: MTFMT was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 26060307; 24461907 Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15 MIM#614947; Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Review for gene: MTFMT was set to GREEN gene: MTFMT was marked as current diagnostic