Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Structural eye disease v0.76 SALL1 Nicola Ragge reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 9973281, PMID: 16088922, PMID: 17221874; Phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease v0.49 SALL1 Ivone Leong edited their review of gene: SALL1: Changed phenotypes: Townes-Brocks branchiootorenal-like syndrome, 107480
Structural eye disease v0.39 SALL1 Ivone Leong reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9973281, 16088922, 17221874; Phenotypes: LATHOSTEROLOSIS, 607330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.13 SALL1 Ivone Leong gene: SALL1 was added
gene: SALL1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SALL1 were set to 16088922; 17221874; 9973281
Phenotypes for gene: SALL1 were set to Townes-Brocks branchiootorenal-like syndrome, 107480