Arthrogryposis
Gene: TK2
TK2 (thymidine kinase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000166548
EnsemblGeneIds (GRCh37): ENSG00000166548
OMIM: 188250, Gene2Phenotype
TK2 is in 15 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No association with arthrogryposisCreated: 22 Dec 2016, 2:49 p.m.
Details
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 188250
- Clinvar variants
- Variants in TK2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Fetal anomalies
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TK2 was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TK2 was created by ellenmcdonagh