Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Intellectual disability v3.1378 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, 611490; Osteopetrosis, autosomal dominant 2, 166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Intellectual disability v3.1377 CLCN7 Arina Puzriakova Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.421 CLCN7 Arina Puzriakova Source Expert Review Red was added to CLCN7.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.250 CLCN7 Arina Puzriakova commented on gene: CLCN7
Intellectual disability v3.0 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability CLCN7 BRIDGE consortium edited their review of CLCN7
Intellectual disability CLCN7 Louise Daugherty classified CLCN7 as amber
Intellectual disability CLCN7 Louise Daugherty commented on CLCN7
Intellectual disability CLCN7 BRIDGE consortium reviewed CLCN7