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| Paediatric disorders - additional genes v0.16 | TTN | Rebecca Foulger changed review comment from: Comment on list classification: Updated rating of TTN on the 'Paediatric disorders - additional genes' panel from Red to Green based on the review Lucy Raymond left on the 'DDG2P' panel. TTN was original Red on the DDG2P panel based on a 'possible' DDG2P Disease confidence for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' (MOI: biallelic). TTN was upgraded to Green on the 'Fetal anomalies' panel following clinical review, and there are sufficient cases from PMIDs 29691892, 28040389, 29575618) to support inclusion on this paediatric panel.; to: Comment on list classification: Updated rating of TTN on the 'Paediatric disorders - additional genes' panel from Red to Green based on the review Lucy Raymond left on the 'DDG2P' panel. TTN was original Red on the DDG2P panel based on a 'possible' DDG2P Disease confidence for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' (MOI: biallelic). TTN was upgraded to Green on the 'Fetal anomalies' panel following clinical review, and there are sufficient cases from PMIDs 29691892, 28040389, 29575618 to support inclusion on this paediatric panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.16 | TTN | Rebecca Foulger Classified gene: TTN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.16 | TTN | Rebecca Foulger Added comment: Comment on list classification: Updated rating of TTN on the 'Paediatric disorders - additional genes' panel from Red to Green based on the review Lucy Raymond left on the 'DDG2P' panel. TTN was original Red on the DDG2P panel based on a 'possible' DDG2P Disease confidence for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' (MOI: biallelic). TTN was upgraded to Green on the 'Fetal anomalies' panel following clinical review, and there are sufficient cases from PMIDs 29691892, 28040389, 29575618) to support inclusion on this paediatric panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.16 | TTN | Rebecca Foulger Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.12 | TTN | Rebecca Foulger commented on gene: TTN: My reviews from 19th Nov 2018 and 18th April 2019 were imported from the DDG2P panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.12 | TTN | Rebecca Foulger commented on gene: TTN: ASCC1 was added to this 'Paediatric disorders - additional genes panel' to allow curation of the review by Lucy Raymond left on the DDG2P panel (Review left April 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.11 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Paediatric disorders - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 17444505; 29691892; 28040389 Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY |
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