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Paediatric motor neuronopathies v1.76 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Paediatric motor neuronopathies v1.74 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.
Paediatric motor neuronopathies v1.71 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Paediatric motor neuronopathies v1.70 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Paediatric motor neuronopathies v1.70 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Paediatric motor neuronopathies v1.69 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. to Myotonic dystrophy 1, OMIM:160900
Paediatric motor neuronopathies v1.68 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric motor neuronopathies v1.19 DMPK_CTG Louise Daugherty Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Red List (low evidence)
Paediatric motor neuronopathies v1.16 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.15 DMPK_CTG Arianna Tucci edited their review of STR: DMPK_CTG: Changed rating: RED
Paediatric motor neuronopathies DMPK Arianna Tucci classified DMPK as Green List (high evidence)
Paediatric motor neuronopathies DMPK Ellen McDonagh Added STR to panel
Paediatric motor neuronopathies DMPK Pinki Munot reviewed DMPK
Paediatric motor neuronopathies DMPK Alice Gardham marked DMPK as ready
Paediatric motor neuronopathies DMPK Alice Gardham classified DMPK as red
Paediatric motor neuronopathies DMPK Alice Gardham commented on DMPK
Paediatric motor neuronopathies DMPK Alice Gardham classified DMPK as green