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Ehlers Danlos syndrome with a likely monogenic cause v2.4 ABCC6 Arina Puzriakova Tag curated_removed tag was added to gene: ABCC6.
Ehlers Danlos syndrome with a likely monogenic cause v1.51 ABCC6 Eleanor Williams Classified gene: ABCC6 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.51 ABCC6 Eleanor Williams Added comment: Comment on list classification: Following discussion at the GMS musculoskeletal specialist test group Webex on 2019-06-04, removing this gene from the panel as the associated PXE phenotype is beyond the scope of this panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.51 ABCC6 Eleanor Williams Gene: abcc6 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ABCC6 Duncan Baker edited their review of gene: ABCC6: Added comment: Following discussion with Dr G Sobey & Dr F van Dijk - rate red; Changed phenotypes: Pseudoxanthoma elasticum OMIM 264800
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ABCC6 Eleanor Williams reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 ABCC6 Eleanor Williams Source NHS GMS was added to ABCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 ABCC6 Duncan Baker edited their review of gene: ABCC6: Added comment: Genes for PXE are not required for this panel; Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v1.40 ABCC6 Duncan Baker commented on gene: ABCC6
Ehlers Danlos syndrome with a likely monogenic cause ABCC6 Louise Daugherty classified ABCC6 as green
Ehlers Danlos syndrome with a likely monogenic cause ABCC6 Louise Daugherty reviewed ABCC6