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Congenital muscular dystrophy v2.27 | DMPK_CTG | Eleanor Williams commented on STR: DMPK_CTG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.27 | DMPK_CTG | Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.27 | DMPK_CTG | Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v2.24 | 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) |
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Congenital muscular dystrophy v2.21 | DMPK_CTG | Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.21 | DMPK_CTG |
Louise Daugherty GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Congenital muscular dystrophy v1.19 | DMPK_CTG | Arianna Tucci Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.18 | DMPK_CTG | Louise Daugherty Tag STR tag was added to STR: DMPK_CTG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.18 | DMPK_CTG | Arianna Tucci Marked STR: DMPK_CTG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.18 | DMPK_CTG | Arianna Tucci Added comment: Comment when marking as ready: Marked as green following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.18 | DMPK_CTG | Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.18 | DMPK_CTG | Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.18 | DMPK_CTG | Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital muscular dystrophy v1.17 | DMPK_CTG |
Arianna Tucci STR: DMPK_CTG was added STR: DMPK_CTG was added to Congenital muscular dystrophy. Sources: Expert Review Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: DMPK_CTG was marked as current diagnostic Added comment: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources: Expert Review |