Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Intellectual disability v8.4 NOP56 Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from Other to Other
Intellectual disability v3.1450 NOP56 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability v3.1450 NOP56 Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability v3.1449 NOP56 Arina Puzriakova Phenotypes for gene: NOP56 were changed from Spinocerebellar ataxia 36, 614153 to Spinocerebellar ataxia 36, OMIM:614153
Intellectual disability v3.1448 NOP56 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: NOP56.
Tag currently-ngs-unreportable tag was added to gene: NOP56.
Intellectual disability v3.917 NOP56 Sarah Leigh Source: Expert Review Amber was removed from gene: NOP56
Intellectual disability NOP56 Louise Daugherty commented on NOP56
Intellectual disability NOP56 BRIDGE consortium edited their review of NOP56
Intellectual disability NOP56 BRIDGE consortium edited their review of NOP56
Intellectual disability NOP56 Louise Daugherty classified NOP56 as amber
Intellectual disability NOP56 Louise Daugherty commented on NOP56
Intellectual disability NOP56 BRIDGE consortium reviewed NOP56