Activity
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10 actions
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| Familial non syndromic congenital heart disease v1.46 | ABL1 | Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Red based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113.; to: Comment on list classification: Updated rating from Amber to Green based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger commented on gene: ABL1: Added missense tag based on PMID:28288113. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Tag missense tag was added to gene: ABL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Red based on advice from Helen Brittain. Wang et al. 2017 (PMID:28288113) report ABL1 germline variants (2 variants, 4 families) cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. ABL1 is on this heart panel based on ventral/atrial septal defects (VSD/ASD) seen in individuals from all four families in PMID:28288113. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.36 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease v1.35 | ABL1 | Rebecca Foulger Phenotypes for gene: ABL1 were changed from Autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations syndrome, 617602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease | ABL1 | Sarah Leigh classified ABL1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease | ABL1 | Sarah Leigh added ABL1 to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial non syndromic congenital heart disease | ABL1 | Sarah Leigh reviewed ABL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||