Mitochondrial DNA maintenance disorder
Gene: TFAMEnsemblGeneIds (GRCh38): ENSG00000108064
EnsemblGeneIds (GRCh37): ENSG00000108064
OMIM: 600438, Gene2Phenotype
TFAM is in 5 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:55 p.m. | Last Modified: 1 Feb 2023, 12:55 p.m.
Panel Version: 2.3
Arina Puzriakova (Genomics England Curator)
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. At least three unrelated cases reported in literature with supportive funtional studies including an animal model.Created: 30 Aug 2022, 9:28 a.m. | Last Modified: 30 Aug 2022, 9:28 a.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM: 617156
Publications
Variants in this GENE are reported as part of current diagnostic practice
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Comment on list classification: Single case report of homozygous missense variants in two siblings from a consanguineous kindred with IUGR, liver failure and death in early infancy. Agreed on specialist group teleconference 25.02.19 that an amber rating was appropriate pending further evidence.Created: 25 Mar 2019, 7:25 a.m.
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: TFAM; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
- OMIM
- 600438
- Clinvar variants
- Variants in TFAM
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: TFAM. Tag Q3_22_NHS_review was removed from gene: TFAM.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to TFAM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TFAM were set to 27448789
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TFAM were changed from ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: TFAM. Tag Q3_22_NHS_review tag was added to gene: TFAM.
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: tfam has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TFAM was added gene: TFAM was added to Mitochondrial DNA maintenance disorder. Sources: NHS GMS Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFAM were set to 27448789 Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156