Ataxia and cerebellar anomalies - narrow panel
Gene: MTFMTEnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 11 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- 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
- OMIM
- 611766
- Clinvar variants
- Variants in MTFMT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: MTFMT.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: MTFMT.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mtfmt has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MTFMT were set to 26060307; 24461907
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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