Activity
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| Congenital muscular dystrophy v6.7 | TK2 | Ida Ertmanska Publications for gene: TK2 were set to 11687801 18021809 19736010 16831967 36146520 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.6 | TK2 | Ida Ertmanska Phenotypes for gene: TK2 were changed from Congenital muscular dystrophy; mitochondrial disease; limb girdle muscular dystrophy to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.5 | TK2 | Ida Ertmanska Classified gene: TK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.5 | TK2 | Ida Ertmanska Gene: tk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.4 | TK2 |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: TK2. Tag Q4_25_NHS_review tag was added to gene: TK2. |
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| Congenital muscular dystrophy v6.4 | TK2 | Ida Ertmanska edited their review of gene: TK2: Added comment: Comment on list classification: There are numerous patients reported in literature with biallelic variants in TK2 and mitochondrial myopathy. More than 25 cases have been reported with rapidly progressive infantile-onset (<1year of age) muscle weakness, usually leading to respiratory failure before age 3. Based on available evidence TK2 should be promoted to Green for Congenital muscular dystrophy at the next GMS update.; Changed publications to: 18819985, 38544965, 40098049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.4 | TK2 | Ida Ertmanska reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560, mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.1 | TK2 | William Macken changed review comment from: Sources: NHS GMS; to: Sources: NHS GMS, TK2 is on a mitochondrial panel however, it causes a muscle predominant phenotype and should be present on congenital muscular dystrophy, LGMD and as a consequence other rare neuromuscular disorders and hypotonic infant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.1 | TK2 |
William Macken gene: TK2 was added gene: TK2 was added to Congenital muscular dystrophy. Sources: NHS GMS Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TK2 were set to 11687801 18021809 19736010 16831967 36146520 Phenotypes for gene: TK2 were set to Congenital muscular dystrophy; mitochondrial disease; limb girdle muscular dystrophy Penetrance for gene: TK2 were set to Complete Mode of pathogenicity for gene: TK2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: TK2 was set to GREEN gene: TK2 was marked as current diagnostic Added comment: Sources: NHS GMS |
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