We are pleased to share a preprint on the gene curation progress from the first 4 years of the ClinGen Syndromic Disorders Gene Curation Expert Panel (GCEP).
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Purpose The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP…
buff.ly
November 24, 2024 at 9:37 AM
We are pleased to share a preprint on the gene curation progress from the first 4 years of the ClinGen Syndromic Disorders Gene Curation Expert Panel (GCEP).
Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
February 18, 2025 at 6:14 AM
Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
New 𝘈𝘳𝘤𝘢𝘥𝘪𝘢 article by Kira Clingen on climate change and the dunes of Long Beach, Massachusetts. #envhist
Dunes, Development, and Delay: Climate Change Comes to Long Beach
An east-coast beachfront neighborhood faces a difficult decision about how to respond to storms and rising seas.
www.environmentandsociety.org
April 3, 2025 at 10:19 AM
New 𝘈𝘳𝘤𝘢𝘥𝘪𝘢 article by Kira Clingen on climate change and the dunes of Long Beach, Massachusetts. #envhist
Als er een gemeente verlegen zit om geopolitieke steun: ik ben beschikbaar. Cultureel/taalkundig/geopolitiek en mbt diaspora/inmenging heb je dan 3 uit 5 genoemde landen (Rusland/Iran/Turkije) covered met mij, bespaart ook op de personeelskosten :)
www.binnenlandsbestuur.nl/bestuur-en-o...
www.binnenlandsbestuur.nl/bestuur-en-o...
‘Gemeenten hebben steunpunt nodig tegen buitenlandse inmenging’
Er moet een landelijk expertisecentrum komen dat gemeenten advies geeft en ondersteunt bij de aanpak van ongewenste buitenlandse inmenging. Daarvoor pleit Christopher Houtkamp, onderzoeker bij Clingen...
www.binnenlandsbestuur.nl
July 29, 2026 at 12:53 PM
Als er een gemeente verlegen zit om geopolitieke steun: ik ben beschikbaar. Cultureel/taalkundig/geopolitiek en mbt diaspora/inmenging heb je dan 3 uit 5 genoemde landen (Rusland/Iran/Turkije) covered met mij, bespaart ook op de personeelskosten :)
www.binnenlandsbestuur.nl/bestuur-en-o...
www.binnenlandsbestuur.nl/bestuur-en-o...
Panel (Dress or Furnishing Fabric), by Designed by Léon Bakst (Russian, born Belarus, 1866–1924)
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11884
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11884
July 26, 2026 at 8:36 PM
Panel (Dress or Furnishing Fabric), by Designed by Léon Bakst (Russian, born Belarus, 1866–1924)
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11884
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11884
hätte mein ohrdruf verwettet dass ich da gera de in jena stadt war, aber für mich clingen die alle gleich
November 7, 2025 at 3:43 PM
hätte mein ohrdruf verwettet dass ich da gera de in jena stadt war, aber für mich clingen die alle gleich
Janewit @janewit-thekidgene.bsky.social was a Mass Gen Brigham fellow when he joined our lab. He is now joint faculty at the Brigham & in Thailand. He conducts biobank-based discovery of genetic forms of adult kidney dz, is part of @clingen & is leading kidney genetic initiatives in Thailand
November 23, 2024 at 3:42 PM
Janewit @janewit-thekidgene.bsky.social was a Mass Gen Brigham fellow when he joined our lab. He is now joint faculty at the Brigham & in Thailand. He conducts biobank-based discovery of genetic forms of adult kidney dz, is part of @clingen & is leading kidney genetic initiatives in Thailand
Delighted that the paper describing the ClinGen resource (clinicalgenome.org) work to develop a Justice, Equity, Diversity, and Inclusion (JEDI) Plan is now out online at @ajhgnews.bsky.social www.cell.com/ajhg/abstrac...
Welcome to ClinGen
clinicalgenome.org
January 9, 2025 at 7:36 PM
Delighted that the paper describing the ClinGen resource (clinicalgenome.org) work to develop a Justice, Equity, Diversity, and Inclusion (JEDI) Plan is now out online at @ajhgnews.bsky.social www.cell.com/ajhg/abstrac...
Now: Shuxi Liu: Collaboration Between the ACMG DEI Committee & ClinGen on Defining Race, Ethnicity & Ancestry in Clinical Applications & Molecular Genetics & Genomics #ACMGmtg24 🧪🧬🖥️
March 14, 2024 at 6:21 PM
Now: Shuxi Liu: Collaboration Between the ACMG DEI Committee & ClinGen on Defining Race, Ethnicity & Ancestry in Clinical Applications & Molecular Genetics & Genomics #ACMGmtg24 🧪🧬🖥️
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel #RareDisease #Genetics #ACMG #ClinGen www.sciencedirect.com/science/arti...
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
Pathogenic variants in SCN1A, SCN2A, SCN3A, SCN8A, and SCN1B have been associated with a spectrum of epilepsy and neurodevelopmental disorders. We cre…
www.sciencedirect.com
June 2, 2026 at 5:03 PM
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel #RareDisease #Genetics #ACMG #ClinGen www.sciencedirect.com/science/arti...
💡Latest DECIPHER features!
⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores
👉 More info www.deciphergenomics.org
#variantinterpretation
⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores
👉 More info www.deciphergenomics.org
#variantinterpretation
September 11, 2025 at 12:37 PM
💡Latest DECIPHER features!
⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores
👉 More info www.deciphergenomics.org
#variantinterpretation
⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores
👉 More info www.deciphergenomics.org
#variantinterpretation
I'm very excited to present about the ClinGen Hereditary Cancer GCEP's recuration of breast/ovarian cancer and colon cancer genes!
The CGC invites you to join Platform Session 2: Variant Curation, Interpretation, and Standardization at the CGC 2025 Annual Meeting on August 3rd. Click here to register: buff.ly/OK5Kjh3
#CGCAnnual2025 #genomics #cancer #research #genetics #clinicaltesting #bioinformatics #cytogenetics
#CGCAnnual2025 #genomics #cancer #research #genetics #clinicaltesting #bioinformatics #cytogenetics
June 16, 2025 at 1:48 PM
I'm very excited to present about the ClinGen Hereditary Cancer GCEP's recuration of breast/ovarian cancer and colon cancer genes!
Panel (Dress or Furnishing Fabric), by Designed by Léon Bakst (Russian, born Belarus, 1868–1924)
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11877
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11877
November 10, 2025 at 3:48 PM
Panel (Dress or Furnishing Fabric), by Designed by Léon Bakst (Russian, born Belarus, 1868–1924)
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11877
Produced by the Robinson Silk Company for Clingen and Selig (New York)
New York, United States
1924
More info: https://www.artic.edu/artworks/11877
A recent preprint introduces MaveMD, a clinical interface for MaveDB that integrates MAVE data with ClinVar and ClinGen to support variant classification and reduce VUS uncertainty.
Uncover the science behind it: www.medrxiv.org/content/10.1...
Uncover the science behind it: www.medrxiv.org/content/10.1...
www.medrxiv.org
January 30, 2026 at 7:19 PM
A recent preprint introduces MaveMD, a clinical interface for MaveDB that integrates MAVE data with ClinVar and ClinGen to support variant classification and reduce VUS uncertainty.
Uncover the science behind it: www.medrxiv.org/content/10.1...
Uncover the science behind it: www.medrxiv.org/content/10.1...
"Navigating variant interpretation in a sea of guidelines"
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
May 25, 2025 at 1:00 PM
"Navigating variant interpretation in a sea of guidelines"
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
A wonderful educational session by Dr Julia Baptista on how to balance the evidence, context, and uncertainty in Genomics; using ACMG/ACGS general criteria as well as ClinGen and disease-specific criteria
#ESHG2025 #VariantInterpretation
Recent updates reveal significant changes in gene-disease associations and clinical relevance of 31 genes related to hypertrophic cardiomyopathy
by Hespe S, Waddell A (...) Ingles J et 27 al. in J Am Coll Cardiol #MedSky
📖 read the article:
by Hespe S, Waddell A (...) Ingles J et 27 al. in J Am Coll Cardiol #MedSky
📖 read the article:
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
March 6, 2025 at 6:37 AM
Recent updates reveal significant changes in gene-disease associations and clinical relevance of 31 genes related to hypertrophic cardiomyopathy
by Hespe S, Waddell A (...) Ingles J et 27 al. in J Am Coll Cardiol #MedSky
📖 read the article:
by Hespe S, Waddell A (...) Ingles J et 27 al. in J Am Coll Cardiol #MedSky
📖 read the article:
Thanks, I had tried to search on @heidirehm.bsky.social and it didn’t come up. We will have to see about ClinGen moving over.
November 15, 2024 at 11:58 AM
Thanks, I had tried to search on @heidirehm.bsky.social and it didn’t come up. We will have to see about ClinGen moving over.
Updated ACMG/AMP Specifications for Variant Interpretation and Gene Curations from the ClinGen RASopathy Expert Panels #RareDisease #Genetics #ACMG #ClinGen www.gimopen.org/article/S294...
April 17, 2025 at 3:45 PM
Updated ACMG/AMP Specifications for Variant Interpretation and Gene Curations from the ClinGen RASopathy Expert Panels #RareDisease #Genetics #ACMG #ClinGen www.gimopen.org/article/S294...
ClinGen experts offer insights on gene-disease links for glomerular phenotypes. Not all genetic variants affect kidney function. Gene curation is key! #Nephrology PMID:42168382, Nat Rev Nephrol 2026, @NatRevNeph @broadinstitute https://doi.org/10.1038/s41581-026-01087-9 #Medsky #Pharmsky #RNA 🧪
Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen | Nature Reviews Nephrology
Glomerular diseases are complex conditions, many of which have a genetic basis. However, although some genetic variants can affect glomerular and thereby kidney function, not all identified variants are pathogenic. The process of evaluating genetic and experimental evidence to determine the validity of gene–disease relationships is known as gene curation, and it is critical for the identification of genes that should be examined in diagnostic tests and used to guide clinical management. Gene curation is a key role of the Clinical Genome Resource (ClinGen) and aims to ensure that the evidence underlying asserted gene–disease relationships across a range of diseases is sufficiently robust through comprehensive review of evidence and standardized evaluation by genetic and disease area-specific experts. The ClinGen Glomerulopathy Gene Curation Expert Panel has evaluated 57 gene–disease relationships from 56 genes that have been putatively linked to glomerular phenotypes. This evaluati
doi.org
June 23, 2026 at 8:00 PM
ClinGen experts offer insights on gene-disease links for glomerular phenotypes. Not all genetic variants affect kidney function. Gene curation is key! #Nephrology PMID:42168382, Nat Rev Nephrol 2026, @NatRevNeph @broadinstitute https://doi.org/10.1038/s41581-026-01087-9 #Medsky #Pharmsky #RNA 🧪
ClinGen Variant Curation Expert Panel Recommendations are now displayed more clearly on gene pages and in the pathogenicity evidence interface, especially for genes with recommendations for more than one disease @theacmg.bsky.social
September 10, 2025 at 3:49 PM
ClinGen Variant Curation Expert Panel Recommendations are now displayed more clearly on gene pages and in the pathogenicity evidence interface, especially for genes with recommendations for more than one disease @theacmg.bsky.social
ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
May 22, 2025 at 3:14 PM
ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
glaube die sind bottoms und clingen deswegen zu schränken
October 2, 2025 at 8:58 AM
glaube die sind bottoms und clingen deswegen zu schränken
If you're interpreting functional assays for clinical use, check out this resource from members of our ClinGen/AVE Functional Data Working Group.
Get more information and download the presentation: www.varianteffect.org/clinical-app...
Read the preprint: www.medrxiv.org/content/10.6...
Get more information and download the presentation: www.varianteffect.org/clinical-app...
Read the preprint: www.medrxiv.org/content/10.6...
August 27, 2026 at 8:01 AM
If you're interpreting functional assays for clinical use, check out this resource from members of our ClinGen/AVE Functional Data Working Group.
Get more information and download the presentation: www.varianteffect.org/clinical-app...
Read the preprint: www.medrxiv.org/content/10.6...
Get more information and download the presentation: www.varianteffect.org/clinical-app...
Read the preprint: www.medrxiv.org/content/10.6...