🆕 Updated prevalence of NF2-related schwannomatosis ▶️ Much higher rate of de novo NF2 than previously reported ▶️ Study strength: Data from a centrally held NF2 UK database, where molecular and clinical data are updated regularly ▶️ bit.ly/4bxi0d1 👥 George Burghel - جورج برغل

▶️New evidence for Tatton-Brown-Rahman syndrome's clinical and molecular spectrum ▶️Second largest cohort of individuals with TBRS ▶️New phenotypes: Localised congenital hypertrichosis & early onset puberty in females 👀 bit.ly/3WerRQg Nico Chatron

🚨 Still on Tatton-Brown-Rahman syndrome: ▶️ Importance of cardiovascular monitoring in patients with TBRS ▶️8 unpublished individuals with TBRS and aortic aneurysms ▶️ Suggested followup for this condition Check: bit.ly/3zCkKs1 ERN-ITHACA VASCERN

📅Save the date! ✅Feb 3-5 2025 🧬Fundamentals 🧬of Variant Interpretation 🧬in Clinical Practice 📌Hinxton, nr Cambridge A cutting-edge update on evolving topics for experienced geneticists as well as a foundation for those new to the subject. DM for further information

DECIPHER version 11.27 has been released. See the new features at deciphergenomics.org #variantinterpretation

UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames Nicky Whiffin Xiaolei Zhang 张小蕾 #noncoding

The structural variant genome track has been updated to Genome Aggregation Database v4.1 – 1,199,117 high quality structural variants identified in 63,046 genomes from unrelated individuals

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd

PNPLA8 is novel AR #Morbidgene for neurodevelopmental / neurodegenerative disorders, some with epileptic–dyskinetic encephalopathy Thanks Reza Maroofian for highlighting

I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: rarediseasegenomics.org/blog/rnu4-2-th… Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!) If you have any RNU4-2 families, please do share!

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

Fresh off the press: The new ACGS Constitution Karyotype Best Practice Guidelines are out! Find them here: acgs.uk.com/media/12611/ac…

So proud that our Windows of Hope project has been shortlisted for STEM project of the year #THEAwards WoH works with Amish communities in North America. Their genetic discovery programme has transformed lives in the community and worldwide Exeter Rare Disease wohproject.com

Great work Exeter Rare Disease!

📢📢📢 Opportunity for young geneticists! European Society of Human Genetics (ESHG) opened call for applications for ESHG Mentorship 🧑‍🎓and Observership 👀Programmes! Apply until 30th November and spend some time in one of the top clinics and laboratories. eshg_young 🧬

Are you a clinician seeking to strengthen your understanding of how to use #genomics tools and technologies for #VariantInterpretation?  Learn with pioneers working in the implementation of genomics into clinical practice, at our #ClinicalGen25 course. 📎bit.ly/3Xozd4z

UK Clinical Genetics BSGM UK Cancer Genetics Group The DECIPHER Project Helen Firth James Fasham Kaitlin Samocha AGNC Nicky Whiffin Diana Baralle Why attend #ClinicalGen25? 🗣️ We'll be joined by leading speakers including: Caroline Wright, Clare Turnbull- Prof/NHS Dr, James Fasham, and James Ware 🖥️ Master online tools (The DECIPHER Project) 🧬 Workshops on cancer and cardiac genetics using DECIPHER 🗓️ Join us 3-5 February 2025

Did you know we organise monthly Lunch & Learn talks available to all our members and on demand on our website?

Join the DECIPHER team and leading experts at the Clinical Genomics - Fundamentals of Variant Interpretation in Clinical Practice course in February 2025. Application deadline 26 November 2024