Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Lymphoedema_nonsyndromic v0.23 CELSR1 Zornitza Stark Publications for gene: CELSR1 were set to 31215153
Lymphoedema_nonsyndromic v0.22 CELSR1 Zornitza Stark commented on gene: CELSR1: 3 unrelated families reported.
Lymphoedema_nonsyndromic v0.22 CELSR1 Zornitza Stark edited their review of gene: CELSR1: Changed publications: 31215153, 31403174, 26855770
Lymphoedema_nonsyndromic v0.22 CELSR1 Zornitza Stark Phenotypes for gene: CELSR1 were changed from lymphoedema to Lymphatic malformation 9, MIM# 619319
Lymphoedema_nonsyndromic v0.21 CELSR1 Zornitza Stark reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 9, MIM# 619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lymphoedema_nonsyndromic v0.5 CELSR1 Zornitza Stark Marked gene: CELSR1 as ready
Lymphoedema_nonsyndromic v0.5 CELSR1 Zornitza Stark Gene: celsr1 has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.5 CELSR1 Sue White Classified gene: CELSR1 as Green List (high evidence)
Lymphoedema_nonsyndromic v0.5 CELSR1 Sue White Gene: celsr1 has been classified as Green List (High Evidence).
Lymphoedema_nonsyndromic v0.4 CELSR1 Sue White gene: CELSR1 was added
gene: CELSR1 was added to Lymphoedema. Sources: Literature
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CELSR1 were set to 31215153
Phenotypes for gene: CELSR1 were set to lymphoedema
Penetrance for gene: CELSR1 were set to Incomplete
Review for gene: CELSR1 was set to GREEN
Added comment: nonsyndromic lymphoedema
LOF variants
Sources: Literature