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Skeletal muscle channelopathy v1.39 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Skeletal muscle channelopathy v1.37 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.
Skeletal muscle channelopathy v1.36 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Skeletal muscle channelopathy v1.36 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 160900 to Myotonic dystrophy 1, OMIM:160900
Skeletal muscle channelopathy v1.35 DMPK Arina Puzriakova Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Skeletal muscle channelopathy v1.34 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Skeletal muscle channelopathy v1.34 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Skeletal muscle channelopathy v1.33 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Skeletal muscle channelopathy v1.31 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1, 16090 to Myotonic dystrophy 1, OMIM:160900
Skeletal muscle channelopathy v0.26 DMPK_CTG Louise Daugherty Classified STR: DMPK_CTG as Green List (high evidence)
Skeletal muscle channelopathy v0.26 DMPK_CTG Louise Daugherty Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v0.25 DMPK Louise Daugherty Classified gene: DMPK as Red List (low evidence)
Skeletal muscle channelopathy v0.25 DMPK Louise Daugherty Added comment: Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.
Skeletal muscle channelopathy v0.25 DMPK Louise Daugherty Gene: dmpk has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v0.24 DMPK_CTG Louise Daugherty STR: DMPK_CTG was added
STR: DMPK_CTG was added to Myotonia congenita. Sources: Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, 16090
Review for STR: DMPK_CTG was set to GREEN
Added comment: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS.
Sources: Expert list
Skeletal muscle channelopathy v0.17 DMPK Louise Daugherty Publications for gene DMPK were changed from to 7825566
Skeletal muscle channelopathy v0.16 DMPK Louise Daugherty Source NHS GMS was added to DMPK.
Skeletal muscle channelopathy v0.15 DMPK James Polke reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: ; Publications: Wong et al 1995 Am J Hum Genet 56, 114-122 PMID: 7825566; Phenotypes: Myotonic dystrophy 1, 160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.14 DMPK Louise Daugherty Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Skeletal muscle channelopathy v0.13 DMPK Louise Daugherty Source Expert Review Green was added to DMPK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.12 DMPK Louise Daugherty gene: DMPK was added
gene: DMPK was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: DMPK was set to