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Congenital myopathy v2.79 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v2.75 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)
Congenital myopathy v2.67 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Congenital myopathy v2.66 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Congenital myopathy v2.65 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Congenital myopathy v2.65 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Congenital myopathy v1.169 DMPK Louise Daugherty reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v1.62 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Congenital myopathy v1.61 DMPK_CTG Arianna Tucci reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy DMPK Ellen McDonagh Added STR to panel
Congenital myopathy DMPK Anna Sarkozy reviewed DMPK
Congenital myopathy DMPK Helen Brittain marked DMPK as ready
Congenital myopathy DMPK Helen Brittain added DMPK to panel
Congenital myopathy DMPK Helen Brittain reviewed DMPK