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Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green was removed from STR: DMPK_CTG.
Tag Q3_25_NHS_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Tag Q3_25_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the association with Myotonic dystrophy. This STR is Green on multiple GMS panels meaning that it has been approved by the NHS STR working group and can be promoted to Green on this panel at the next GMS panel update.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.26 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green tag was added to STR: DMPK_CTG.
Tag Q3_25_expert_review tag was added to STR: DMPK_CTG.
Tag Q3_25_NHS_review tag was added to STR: DMPK_CTG.
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova edited their review of STR: DMPK_CTG: Added comment: Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group:

"Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement. Few published cases include prenatal neuroimaging findings, and ventriculomegaly has been described Shear et al, 2024: report expansion of the prenatal phenotype of DM1 with fetal SVT and frontal bossing with dilated subarachnoid spaces."; Changed rating: GREEN; Changed phenotypes to: Myotonic dystrophy 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova Tag Q3_21_rating was removed from STR: DMPK_CTG.
Tag Q3_21_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber.
Fetal anomalies v1.842 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal anomalies v1.840 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.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Tag Q3_21_rating tag was added to STR: DMPK_CTG.
Tag Q3_21_expert_review tag was added to STR: DMPK_CTG.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected.

Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova Entity copied from Skeletal muscle channelopathy v1.31
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova STR: DMPK_CTG was added
STR: DMPK_CTG was added to Fetal anomalies. Sources: Expert Review Green,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, OMIM:160900
Fetal anomalies v1.687 DMPK Arina Puzriakova changed review comment from: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review 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: This gene should be demoted from Green to Red at the next GMS review 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.

DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected.