Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Structural eye disease v0.91 ESCO2 Nicola Ragge reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16380922, 19574259; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Structural eye disease v0.89 ESCO2 Ivone Leong Source Expert Review Green was added to ESCO2.
Source NHS GMS was added to ESCO2.
Publications for gene ESCO2 were changed from to 16380922; 19574259
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Structural eye disease v0.88 ESCO2 Ivone Leong Source Expert Review Amber was added to ESCO2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.60 ESCO2 Mariya Moosajee reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SC Phocomelia Syndrome; Mode of inheritance:
Structural eye disease v0.59 ESCO2 Ivone Leong gene: ESCO2 was added
gene: ESCO2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC Phocomelia Syndrome, 269000