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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