| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ehlers Danlos syndrome with a likely monogenic cause v2.52 | ABL1 | Ivone Leong Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, 617602 to Congenital heart defects and skeletal malformations syndrome, OMIM:617602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.61 | ABL1 | Eleanor Williams changed review comment from: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel.; to: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. They advise that it does not need to be green on the EDS panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.60 | ABL1 | Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.60 | ABL1 | Eleanor Williams Added comment: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.60 | ABL1 | Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.38 | ABL1 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Seleced 'LOF do not cause this phenotype' on advice from Helen Brittain, Clinical Fellow, in view of the postulated gain of function mechanism (two recurent missense variants). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.38 | ABL1 | Rebecca Foulger Mode of pathogenicity for gene: ABL1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.37 | ABL1 | Rebecca Foulger Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.37 | ABL1 | Rebecca Foulger Added comment: Comment on list classification: Rated as Green as advised by Helen Brittain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.37 | ABL1 | Rebecca Foulger Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v1.36 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Ehlers Danlos syndromes. Sources: Literature missense tags were added to gene: ABL1. Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome, 617602 Mode of pathogenicity for gene: ABL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: ABL1 was set to GREEN Added comment: Added ABL1 to EDS panel as requested by Helen Brittain, clinical fellow. Wang et al, 2017 (PMID:28288113) report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities and failure to thrive. 2 variants reported in 4 families, including c.734A>G (p.Tyr245Cys) found to occur in 3 famililes. Included on this EDS panel on advice from Helen Brittain: the kyphosis / scoliosis / velvety skin could overlap with the EDS syndromes panel as a mimic of kyphoscoliotic EDS. Sources: Literature |
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