Multiple lipomas
Gene: MT-TK
MT-TK (mitochondrially encoded tRNA lysine)
EnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000210156
EnsemblGeneIds (GRCh37): ENSG00000210156
OMIM: 590060, Gene2Phenotype
MT-TK is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed internally with Richard Scott and this should be promoted to green. Is green on the mitochondrial disorder panel Version 1.16.Created: 14 Dec 2016, 11:47 a.m.
The mt.8344A>G mutation has been reported in a pedigree with familial multiple symmetric lipomatosis.Created: 25 Oct 2016, 4:10 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
multiple symmetric lipomatosis
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- multiple symmetric lipomatosis
- Tags
- OMIM
- 590060
- Clinvar variants
- Variants in MT-TK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Multiple lipomas
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Congenital myopathy
- Gastrointestinal neuromuscular disorders
- Optic neuropathy
- Monogenic hearing loss
- Intellectual disability
- Undiagnosed metabolic disorders
History Filter Activity
15 Jul 2024, Gel status: 3
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-transfer tag was added to gene: MT-TK.
4 May 2022, Gel status: 3
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-TK.
14 Dec 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14/Dec/2016: panel reviewed internally and promoted to version 1.
14 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Oct 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MT-TK was created by ellenmcdonagh
25 Oct 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MT-TK was added to Multiple lipomaspanel. Sources: Literature