Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Intellectual disability v3.1519 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Intellectual disability v3.1518 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Intellectual disability v3.1518 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Intellectual disability v3.1515 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1433 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Intellectual disability v3.1432 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 160900; DYSTROPHIA MYOTONICA TYPE 1 (DM1) to Myotonic dystrophy 1, OMIM:160900
Intellectual disability v3.1431 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Intellectual disability v3.1431 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Intellectual disability v2.564 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Intellectual disability v2.564 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Red List (Low Evidence).
Intellectual disability v2.563 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Intellectual disability DMPK Ellen McDonagh Added STR to panel
Intellectual disability DMPK BRIDGE consortium edited their review of DMPK
Intellectual disability DMPK BRIDGE consortium edited their review of DMPK
Intellectual disability DMPK BRIDGE consortium reviewed DMPK
Intellectual disability DMPK Alice Gardham commented on DMPK