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| Paediatric disorders - additional genes v0.15 | ASCC1 | Rebecca Foulger Classified gene: ASCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.15 | ASCC1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating of ASCC1 on the 'Paediatric disorders - additional genes' panel from Red to Green based on the review Julia Baptista left on the 'DDG2P' panel and the 'Fetal anomalies' panel. ASCC1 was originally Red on the DDG2P panel based on a Gene2Phenotype Disease confidence rating of 'possible' for: Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures (MOI: biallelic). There are sufficient cases to support inclusion as a Green paediatric gene as per Julia Baptista's review. ASCC1 is already Green on the Fetal anomalies panel, and the Arthrogryposis panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.15 | ASCC1 | Rebecca Foulger Gene: ascc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.14 | ASCC1 | Rebecca Foulger Phenotypes for gene: ASCC1 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures; spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.13 | ASCC1 | Rebecca Foulger Publications for gene: ASCC1 were set to 26924529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.12 | ASCC1 | Rebecca Foulger commented on gene: ASCC1: My review from 18th Nov 2018 was 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 v0.12 | ASCC1 | Rebecca Foulger commented on gene: ASCC1: ASCC1 was added to this 'Paediatric disorders - additional genes panel' to allow curation of the review by Julia Baptista left on the DDG2P panel (Review left March 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.11 | ASCC1 |
Rebecca Foulger gene: ASCC1 was added gene: ASCC1 was added to Paediatric disorders - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to 26924529 Phenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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