Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Alstrom syndrome v0.3 ALMS1 Eleanor Williams changed review comment from: ALMS1 has been added to the panel for R106 Alstrom syndrome with a green rating as agreed with the NHS Genomic Medicine Service.; to: ALMS1 has been added to the panel for the clinical indication 'R106 Alstrom syndrome' with a green rating as agreed with the NHS Genomic Medicine Service.
Alstrom syndrome v0.3 ALMS1 Eleanor Williams reviewed gene: ALMS1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Alstrom syndrome v0.2 ALMS1 Eleanor Williams gene: ALMS1 was added
gene: ALMS1 was added to Alstrom syndrome. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal