@diseasegenes.bsky.social
I report new human disease-gene associations.
Let me know if I miss one!
(use #MorbidGene - message me first so I can set you up!)
Creator: @JamesFasham.bsky.social
#Genomics #RareDisease #Genetics
Let me know if I miss one!
(use #MorbidGene - message me first so I can set you up!)
Creator: @JamesFasham.bsky.social
#Genomics #RareDisease #Genetics
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1155/...
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
t.co
December 15, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1155/...
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
New finding from FranMartinezGr on Twitter/X! ift.tt/Xr0oUTC
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene t.co/jkcUoZuynF
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene t.co/jkcUoZuynF
t.co
December 12, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/Xr0oUTC
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene t.co/jkcUoZuynF
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs #RareDisease #Genetics #morbidgene t.co/jkcUoZuynF
New finding from FranMartinezGr on Twitter/X! ift.tt/Adth017
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene
t.co
December 10, 2025 at 5:30 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/Adth017
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia #RareDisease #Genetics #morbidgene
New finding from FranMartinezGr on Twitter/X! ift.tt/9HpZCqN
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype …
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype …
t.co
December 7, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/9HpZCqN
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype …
Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy #RareDisease #Genetics #morbidgene #newphenotype …
New finding from FranMartinezGr on Twitter/X! ift.tt/0OykHXT
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene t.co/vXkzOgA1b7
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene t.co/vXkzOgA1b7
t.co
December 3, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/0OykHXT
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene t.co/vXkzOgA1b7
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications #RareDisease #Genetics #morbidgene t.co/vXkzOgA1b7
New finding from FranMartinezGr on Twitter/X! ift.tt/IgmlpUi
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene t.co/Ei07QnduaS
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene t.co/Ei07QnduaS
t.co
December 1, 2025 at 3:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/IgmlpUi
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene t.co/Ei07QnduaS
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction #RareDisease #Genetics #morbidgene t.co/Ei07QnduaS
New finding from FranMartinezGr on Twitter/X! ift.tt/yrdBtZg
C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene
C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene
t.co
December 1, 2025 at 9:42 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/yrdBtZg
C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene
C-terminal extension of HSPB6 in a family with myopathy and cataract #RareDisease #Genetics #morbidgene
New finding from DennyPopp on Twitter/X!
RT @platzer_k: Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and ne…
RT @platzer_k: Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and ne…
December 1, 2025 at 8:02 AM
New finding from DennyPopp on Twitter/X!
RT @platzer_k: Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and ne…
RT @platzer_k: Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and ne…
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/...
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene
t.co
November 30, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/...
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis #RareDisease #Genetics #morbidgene
New finding from StefanBarakat on Twitter/X! ift.tt/ITRsMEh
More international collaborative work:
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidg…
More international collaborative work:
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidg…
t.co
November 28, 2025 at 6:14 PM
New finding from StefanBarakat on Twitter/X! ift.tt/ITRsMEh
More international collaborative work:
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidg…
More international collaborative work:
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila #raredisease #morbidg…
New finding from platzer_k on Twitter/X! ift.tt/VrcRzam
Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.
🧬 🧠 👇 #MorbidGene
Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.
🧬 🧠 👇 #MorbidGene
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction
NPTN encodes human neuroplastin (hNp), a subunit of plasma membrane Ca2+-ATPases (PMCA). The critical importance of hNp and its associations with PMCA are unknown for the human brain. Here, we describe...
t.co
November 28, 2025 at 5:32 PM
New finding from platzer_k on Twitter/X! ift.tt/VrcRzam
Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.
🧬 🧠 👇 #MorbidGene
Happy to share a preprint of our work on how De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.
🧬 🧠 👇 #MorbidGene
New finding from FranMartinezGr on Twitter/X! ift.tt/JI0FLPO
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene t.co/NrsrpyJ6n2
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene t.co/NrsrpyJ6n2
t.co
November 27, 2025 at 1:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/JI0FLPO
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene t.co/NrsrpyJ6n2
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype #RareDisease #Genetics #morbidgene t.co/NrsrpyJ6n2
New finding from FranMartinezGr on Twitter/X! ift.tt/aulLIzF
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport
Inborn errors of metabolism (IEMs) lead to early-onset neurodegenerative disorders often caused by mitochondrial dysfunction. In this study, we identified a homozygous frameshift mutation (c.283dupG;...
t.co
November 26, 2025 at 11:14 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/aulLIzF
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport #RareDisease #Genetics #morbidgene
New finding from FranMartinezGr on Twitter/X! ift.tt/hRn8PX9
Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene t.co/CANkLGLcZu
Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene t.co/CANkLGLcZu
t.co
November 26, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/hRn8PX9
Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene t.co/CANkLGLcZu
Expanding the phenotype associated with biallelic SCNM1 variants #RareDisease #Genetics #morbidgene t.co/CANkLGLcZu
New finding from A_Khan731 on Twitter/X!
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
November 20, 2025 at 3:14 PM
New finding from A_Khan731 on Twitter/X!
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
New finding from FranMartinezGr on Twitter/X! ift.tt/LhzgUCA
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene
t.co
November 20, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/LhzgUCA
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia #RareDisease #Genetics #morbidgene
New finding from JoeBio76 on Twitter/X!
RT @FranMartinezGr: Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene h…
RT @FranMartinezGr: Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene h…
November 19, 2025 at 11:14 AM
New finding from JoeBio76 on Twitter/X!
RT @FranMartinezGr: Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene h…
RT @FranMartinezGr: Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene h…
New finding from JoeBio76 on Twitter/X!
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
November 19, 2025 at 9:32 AM
New finding from JoeBio76 on Twitter/X!
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
RT @FranMartinezGr: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #mo…
New finding from FranMartinezGr on Twitter/X! ift.tt/E60azFj
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene t.co/SN0LBoFtSV
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene t.co/SN0LBoFtSV
t.co
November 18, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/E60azFj
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene t.co/SN0LBoFtSV
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability #RareDisease #Genetics #morbidgene t.co/SN0LBoFtSV
New finding from TWright_GenomeX on Twitter/X! ift.tt/oPTrvbs
@Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM @adam_jackson89 @MFTnhs @j_ellingford @GenomicsEngland @Stefa…
@Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM @adam_jackson89 @MFTnhs @j_ellingford @GenomicsEngland @Stefa…
t.co
November 18, 2025 at 3:14 PM
New finding from TWright_GenomeX on Twitter/X! ift.tt/oPTrvbs
@Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM @adam_jackson89 @MFTnhs @j_ellingford @GenomicsEngland @Stefa…
@Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM @adam_jackson89 @MFTnhs @j_ellingford @GenomicsEngland @Stefa…