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| Paediatric pseudo-obstruction syndrome v0.216 | TK2 | Achchuthan Shanmugasundram commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.156 | TK2 | Achchuthan Shanmugasundram Classified gene: TK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.156 | TK2 | Achchuthan Shanmugasundram Gene: tk2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.155 | TK2 |
Achchuthan Shanmugasundram edited their review of gene: TK2: Added comment: 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.; Changed rating: RED |
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| Paediatric pseudo-obstruction syndrome v0.155 | TK2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.152 | TK2 | Achchuthan Shanmugasundram Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.151 | TK2 | Achchuthan Shanmugasundram Publications for gene: TK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.150 | TK2 | Achchuthan Shanmugasundram Mode of inheritance for gene: TK2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.149 | TK2 | Achchuthan Shanmugasundram Classified gene: TK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.149 | TK2 | Achchuthan Shanmugasundram Gene: tk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.148 | TK2 | Achchuthan Shanmugasundram reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23385875; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | TK2 | Eleanor Williams reviewed gene: TK2: Rating: ; Mode of pathogenicity: ; Publications: 23385875; Phenotypes: myopathic changes on EMG, Loss of motor function, progressive external ophthalmoplegia, respiratory failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | TK2 |
Eleanor Williams 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 |
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