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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. |
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| Skeletal muscle channelopathy v1.36 | DMPK_CTG | Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.24 | 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 |
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