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Severe Paediatric Disorders v1.88 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Severe Paediatric Disorders v1.88 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 160900 to Myotonic dystrophy 1, OMIM:160900
Severe Paediatric Disorders v1.87 DMPK Arina Puzriakova Classified gene: DMPK as Green List (high evidence)
Severe Paediatric Disorders v1.87 DMPK Arina Puzriakova Gene: dmpk has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.86 DMPK Arina Puzriakova changed review comment from: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: Genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. Should be demoted to Red due to disease mechanism however as this is a research panel based on a publication the Green rating will be maintained.
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Classified gene: DMPK as Red List (low evidence)
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Added comment: Comment on list classification: Demoted from Green to Red due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Severe Paediatric Disorders v1.81 DMPK Arina Puzriakova Gene: dmpk has been classified as Red List (Low Evidence).
Severe Paediatric Disorders v1.78 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
Severe Paediatric Disorders v1.78 DMPK Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe Paediatric Disorders v0.17 DMPK Louise Daugherty Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 DMPK Louise Daugherty reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 DMPK Louise Daugherty Publications for gene DMPK were updated from to 30847515
Severe Paediatric Disorders v0.10 DMPK Louise Daugherty Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Severe Paediatric Disorders v0.9 DMPK Louise Daugherty Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Severe Paediatric Disorders v0.9 DMPK Louise Daugherty Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Severe Paediatric Disorders v0.8 DMPK Louise Daugherty Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Severe Paediatric Disorders v0.7 DMPK Louise Daugherty Source Next Generation Children Project was added to DMPK.
Severe Paediatric Disorders v0.5 DMPK Louise Daugherty Source Expert Review Green was added to DMPK.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 DMPK Louise Daugherty gene: DMPK was added
gene: DMPK was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: DMPK was set to