| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.67 | TKFC | Rylee Peters Marked gene: TKFC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.67 | TKFC | Rylee Peters Gene: tkfc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.67 | TKFC | Rylee Peters Classified gene: TKFC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.67 | TKFC | Rylee Peters Gene: tkfc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.66 | TKFC |
Rylee Peters gene: TKFC was added gene: TKFC was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 39251934; 32004446 Phenotypes for gene: TKFC were set to Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Review for gene: TKFC was set to AMBER Added comment: PMID: 32004446 reports 4 individuals from 2 consanguineous families with homozygous variants in TKFC. The first family had 2 children with phenotypes including cataract, lactic acidosis, cardiomyopathy. The second family had one child with cataracts and poor weight gain and one child with isolated delayed speech and learning difficulties. PMID: 39251934 reports 2 individuals from 1 consanguineous family with a homozygous TKFC missense variant presenting with severe skeletal abnormalities, fetal cerebral hypoplasia, fetal reduced movements, liver dysfunction, and fatal hypertrophic cardiomyopathy. They were also homozygous for a TYR LoF variant. Sources: Literature |
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