'EHMT2-related Kleefstra syndrome' added to DDG2P. Monoallelic dominant negative variants in EHMT2 cause a disorder characterised by global developmental delay, facial dysmorphism, cardiovascular anomalies, and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
October 1, 2026 at 7:55 AM
'EHMT2-related Kleefstra syndrome' added to DDG2P. Monoallelic dominant negative variants in EHMT2 cause a disorder characterised by global developmental delay, facial dysmorphism, cardiovascular anomalies, and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
May 29, 2025 at 11:09 AM
Nicola Whiffin @nickywhiffin.bsky.social #ESHG2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Saturation mutagenesis outperforms CADD
Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Saturation mutagenesis outperforms CADD
Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene
May 26, 2025 at 9:45 AM
Nicola Whiffin @nickywhiffin.bsky.social #ESHG2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Saturation mutagenesis outperforms CADD
Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Saturation mutagenesis outperforms CADD
Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene
Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability #RareDisease #Genetics #NewPhenotype #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
October 2, 2026 at 5:36 PM
Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability #RareDisease #Genetics #NewPhenotype #morbidgene onlinelibrary.wiley.com/doi/10.1002/...
Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
September 11, 2025 at 5:03 AM
Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
October 3, 2026 at 5:46 PM
Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
I'm in Space 1 + 2, listening to @platzer_k
My first new #MorbidGene of #ESHG2025
de novo NPTN variants (missense and truncating) cause AD NDD.
Functional studies in drosophilia (KD is lethal) mice (haploinsufficient ⬇️ anxious, ⬇️ startle)
(No preprint that I can see)
My first new #MorbidGene of #ESHG2025
de novo NPTN variants (missense and truncating) cause AD NDD.
Functional studies in drosophilia (KD is lethal) mice (haploinsufficient ⬇️ anxious, ⬇️ startle)
(No preprint that I can see)
May 24, 2025 at 4:44 PM
I'm in Space 1 + 2, listening to @platzer_k
My first new #MorbidGene of #ESHG2025
de novo NPTN variants (missense and truncating) cause AD NDD.
Functional studies in drosophilia (KD is lethal) mice (haploinsufficient ⬇️ anxious, ⬇️ startle)
(No preprint that I can see)
My first new #MorbidGene of #ESHG2025
de novo NPTN variants (missense and truncating) cause AD NDD.
Functional studies in drosophilia (KD is lethal) mice (haploinsufficient ⬇️ anxious, ⬇️ startle)
(No preprint that I can see)
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy
BRSK1 is required for neural development, but its role in human disease is poorly
understood. We report 10 individuals with seven BRSK1 variants who exhibit neurodevelopmental
delay, sometimes accompa...
www.cell.com
September 28, 2026 at 3:16 PM
Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...
(just testing the new 🤖 @diseasegenes.bsky.social bot)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
May 29, 2025 at 10:46 AM
(just testing the new 🤖 @diseasegenes.bsky.social bot)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
#MorbidGene
(please see it's page, I will need to preauthorise all posters on BlueSky, API issues 🙄)
Kym Boycott #ESHG2025
Disease-Gene discoveries are falling 😲
Don't tell @DiseaseGenes bot! 🤖
#MorbidGene
In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy
Disease-Gene discoveries are falling 😲
Don't tell @DiseaseGenes bot! 🤖
#MorbidGene
In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy
May 27, 2025 at 7:23 AM
Kym Boycott #ESHG2025
Disease-Gene discoveries are falling 😲
Don't tell @DiseaseGenes bot! 🤖
#MorbidGene
In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy
Disease-Gene discoveries are falling 😲
Don't tell @DiseaseGenes bot! 🤖
#MorbidGene
In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy
Siddharth Banka #ESHG2025
R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene
Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs
www.medrxiv.org/content/10.1...
R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene
Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs
www.medrxiv.org/content/10.1...
May 25, 2025 at 9:49 AM
Siddharth Banka #ESHG2025
R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene
Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs
www.medrxiv.org/content/10.1...
R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene
Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs
www.medrxiv.org/content/10.1...
Mathieu Quinodoz #ESHG2025
De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2
#RNU6-1 #RNU6-2 #RNU6-9
#MorbidGene
www.medrxiv.org/content/10.1...
Age of onset typically 15-30y
De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2
#RNU6-1 #RNU6-2 #RNU6-9
#MorbidGene
www.medrxiv.org/content/10.1...
Age of onset typically 15-30y
May 25, 2025 at 8:46 AM
Mathieu Quinodoz #ESHG2025
De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2
#RNU6-1 #RNU6-2 #RNU6-9
#MorbidGene
www.medrxiv.org/content/10.1...
Age of onset typically 15-30y
De novo & inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
1.4% unsolved #RetinitisPigmentosa cases solved with variants in #RNU4-2
#RNU6-1 #RNU6-2 #RNU6-9
#MorbidGene
www.medrxiv.org/content/10.1...
Age of onset typically 15-30y
Johnny Bou-Rouphael #ESHG2025
De novo variants in splicing factor SF1 lead to new NDD
15 individuals (missense/pLoF)
Highly expr in neural progenitors
Upregulation of dev. genes, many panelApp ID green
Leads to alternative splicing: 241 differentially regulated
#MorbidGene
De novo variants in splicing factor SF1 lead to new NDD
15 individuals (missense/pLoF)
Highly expr in neural progenitors
Upregulation of dev. genes, many panelApp ID green
Leads to alternative splicing: 241 differentially regulated
#MorbidGene
May 24, 2025 at 5:30 PM
Johnny Bou-Rouphael #ESHG2025
De novo variants in splicing factor SF1 lead to new NDD
15 individuals (missense/pLoF)
Highly expr in neural progenitors
Upregulation of dev. genes, many panelApp ID green
Leads to alternative splicing: 241 differentially regulated
#MorbidGene
De novo variants in splicing factor SF1 lead to new NDD
15 individuals (missense/pLoF)
Highly expr in neural progenitors
Upregulation of dev. genes, many panelApp ID green
Leads to alternative splicing: 241 differentially regulated
#MorbidGene
Marcello Scala (Genoa) #ESHG2025
PPFIA2 cause AD(?/AR) NDD with autistic features. #MorbidGene
- Encodes lipirin 2
- Related to disruption of the Active Zone (AZ)
- 11 families with AD (mostly de novo), one AR
PPFIA2 cause AD(?/AR) NDD with autistic features. #MorbidGene
- Encodes lipirin 2
- Related to disruption of the Active Zone (AZ)
- 11 families with AD (mostly de novo), one AR
May 24, 2025 at 5:48 PM
Marcello Scala (Genoa) #ESHG2025
PPFIA2 cause AD(?/AR) NDD with autistic features. #MorbidGene
- Encodes lipirin 2
- Related to disruption of the Active Zone (AZ)
- 11 families with AD (mostly de novo), one AR
PPFIA2 cause AD(?/AR) NDD with autistic features. #MorbidGene
- Encodes lipirin 2
- Related to disruption of the Active Zone (AZ)
- 11 families with AD (mostly de novo), one AR
Missense variants in TUBA4A cause myo-tubulinopathies #RareDisease #Genetics #morbidgene #newphenotype academic.oup.com/brain/advanc...
February 12, 2026 at 8:33 PM
Missense variants in TUBA4A cause myo-tubulinopathies #RareDisease #Genetics #morbidgene #newphenotype academic.oup.com/brain/advanc...
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity #RareDisease #Genetics #morbidgene genomemedicine.biomedcentral.com/articles/10....
March 4, 2025 at 7:48 AM
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity #RareDisease #Genetics #morbidgene genomemedicine.biomedcentral.com/articles/10....
A homozygous human WNT11 variant is associated with laterality, heart and renal defects #RareDisease #Genetics #morbidgene journals.biologists.com/dmm/article/...
May 19, 2025 at 11:15 AM
A homozygous human WNT11 variant is associated with laterality, heart and renal defects #RareDisease #Genetics #morbidgene journals.biologists.com/dmm/article/...
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
November 18, 2025 at 6:11 PM
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...
EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
February 7, 2026 at 11:22 AM
EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction #RareDisease #Genetics #morbidgene www.jci.org/articles/vie...
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/...
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes #RareDisease #Genetics #morbidgene t.co/cEaWYvCr96
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes #RareDisease #Genetics #morbidgene t.co/cEaWYvCr96
t.co
March 9, 2026 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1111/...
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes #RareDisease #Genetics #morbidgene t.co/cEaWYvCr96
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes #RareDisease #Genetics #morbidgene t.co/cEaWYvCr96
New finding from FranMartinezGr on Twitter/X! ift.tt/NW5hwcY
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function #RareDisease #Genetics #morbidgene t.co/BeXx7EM8MU
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function #RareDisease #Genetics #morbidgene t.co/BeXx7EM8MU
t.co
June 2, 2025 at 5:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/NW5hwcY
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function #RareDisease #Genetics #morbidgene t.co/BeXx7EM8MU
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function #RareDisease #Genetics #morbidgene t.co/BeXx7EM8MU
New finding from FranMartinezGr on Twitter/X! ift.tt/VXpeW7c
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis #RareDisease #Genetics #morbidgene
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis #RareDisease #Genetics #morbidgene
t.co
June 10, 2025 at 7:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/VXpeW7c
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis #RareDisease #Genetics #morbidgene
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis #RareDisease #Genetics #morbidgene
More international collaborative work:
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...
November 28, 2025 at 5:14 PM
More international collaborative work:
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidgene #genetics #diseasemodelling www.sciencedirect.com/science/arti...
A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies #RareDisease #Genetics #NewPhenotype #morbidgene www.cell.com/ajhg/abstrac...
September 21, 2026 at 6:26 PM
A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies #RareDisease #Genetics #NewPhenotype #morbidgene www.cell.com/ajhg/abstrac...