Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Ehlers Danlos syndrome with a likely monogenic cause v2.56 NOTCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Connective Tissue Disorders;Aortic valve disease 1, 109730;Familial thoracic aortic aneurysm;Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndrome with a likely monogenic cause v2.56 NOTCH1 Ivone Leong Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV) to connective tissue disease, MONDO:0003900
Ehlers Danlos syndrome with a likely monogenic cause v1.46 NOTCH1 Eleanor Williams Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm to Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndrome with a likely monogenic cause v1.43 NOTCH1 Duncan Baker commented on gene: NOTCH1: Following discussion with Dr Diana Johnson - rate red
Ehlers Danlos syndrome with a likely monogenic cause v1.42 NOTCH1 Eleanor Williams reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 NOTCH1 Eleanor Williams Source NHS GMS was added to NOTCH1.
Ehlers Danlos syndrome with a likely monogenic cause v1.40 NOTCH1 Duncan Baker reviewed gene: NOTCH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bicuspid, or bicommissural, aortic valve (BAV); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Helen Brittain reviewed NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Louise Daugherty classified NOTCH1 as amber
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Louise Daugherty commented on NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Louise Daugherty classified NOTCH1 as green
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Angela Brady reviewed NOTCH1
Ehlers Danlos syndrome with a likely monogenic cause NOTCH1 Neeti Ghali reviewed NOTCH1