Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Ehlers Danlos syndrome with a likely monogenic cause v2.55 MYLK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v2.55 MYLK Ivone Leong Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780
Ehlers Danlos syndrome with a likely monogenic cause v1.62 MYLK Eleanor Williams commented on gene: MYLK: This gene is associated with Familial thoracic aortic aneurysm. Although patients with variants in this gene may present with EDS features it was decided following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it to keep this gene amber. If more evidence of an overlap in phenotypes becomes available the rating can be reviewed.
Ehlers Danlos syndrome with a likely monogenic cause v1.44 MYLK Eleanor Williams Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm to Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v1.43 MYLK Duncan Baker edited their review of gene: MYLK: Changed phenotypes: aortic dissection with or without aortic aneurysm
Ehlers Danlos syndrome with a likely monogenic cause v1.42 MYLK Eleanor Williams reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 MYLK Eleanor Williams Source NHS GMS was added to MYLK.
Ehlers Danlos syndrome with a likely monogenic cause v1.40 MYLK Duncan Baker reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause MYLK Helen Brittain reviewed MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty classified MYLK as amber
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty classified MYLK as green
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty classified MYLK as green
Ehlers Danlos syndrome with a likely monogenic cause MYLK Angela Brady reviewed MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYLK Neeti Ghali reviewed MYLK
Ehlers Danlos syndrome with a likely monogenic cause MYLK Louise Daugherty commented on MYLK