Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.845 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 (3) to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506
Prepair 1000+ v1.844 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Prepair 1000+ v1.843 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Marked gene: ERCC6L2 as ready
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Gene: ercc6l2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Publications for gene: ERCC6L2 were set to
Prepair 1000+ v1.76 ERCC6L2 Lucy Spencer reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37696499, 29987015; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 ERCC6 Seb Lunke Added phenotypes Cockayne syndrome, type B, 133540 (3) for gene: ERCC6
Prepair 1000+ v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
Prepair 1000+ v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)