Paediatric pseudo-obstruction syndrome
Gene: TK2
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: This gene should be rated RED as I do not see any association of this gene with intestinal dysmotility and pseudo-obstruction.
This gene has been associated with mitochondrial DNA depletion syndrome 2 (myopathic type) (MIM #609560) in OMIM. However, this disorder is characterised by hypotonia and muscle weakness, facial weakness, bulbar weakness (dysarthria and dysphagia) and elevated serum creatine phosphokinase. I do not see any clear indication of links of this disorder with either pseudo-obstruction or intestinal dysmotility.Created: 2 Jan 2023, 10:31 a.m. | Last Modified: 2 Jan 2023, 10:31 a.m.
Panel Version: 0.155
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Publications
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: pyrimidine nucleoside salvage pathway.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathic changes on EMG, Loss of motor function, progressive external ophthalmoplegia, respiratory failure
Publications
Gene: tk2 has been classified as Red List (Low Evidence).
Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Publications for gene: TK2 were set to
Mode of inheritance for gene: TK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: tk2 has been classified as Green List (High Evidence).
gene: TK2 was added gene: TK2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TK2 was set to