White matter disorders and cerebral calcification - narrow panel
Gene: MTFMTEnsemblGeneIds (GRCh38): ENSG00000103707
EnsemblGeneIds (GRCh37): ENSG00000103707
OMIM: 611766, Gene2Phenotype
MTFMT is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 15, OMIM:614947
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MTFMT were changed from Combined oxidative phosphorylation deficiency 15; 22499348; 614947; 23499752 to Combined oxidative phosphorylation deficiency 15, OMIM:614947
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MTFMT was added gene: MTFMT was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTFMT were set to 21907147; 24461907; 27564080 Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 614947; 23499752