G2P is going to be at ISCB UK in Cambridge!
Come say Hi 👋 at poster A-08.
@iscb.bsky.social

'KDM2A-related neurodevelopmental disorder with growth restriction' added to DDG2P. Monoallelic variants in KDM2A cause a disorder characterised by intellectual disability, growth issues, feeding difficulties, and recurrent facial features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'RNF213-related moyamoya disease' added to DDG2P. Monoallelic variants in RNF213 cause a disorder characterised by early onset transient ischemic attacks, cerebral infarction, and rupture of the collateral vessels that can cause intracranial hemorrhage. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'SNUPN-related muscular dystrophy with or without multi-system involvement' added to DDG2P. Biallelic LoF variants in SNUPN cause a disorder characterised by proximal weakness in childhood, restrictive respiratory dysfunction and prominent contractures. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'PRMT9-related syndromic neurodevelopmental disorder with or without seizures and digital anomalies' added to DDG2P. Biallelic LoF variants in PRMT9 cause a disorder characterised by GDD, intellectual disability, autism, epilepsy, and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease

N=1 treatment information is now displayed on a new N=1 tab. These are treatments for highly personalized, single-patient clinical trials or custom-designed therapies, curated by the @n1collaborative.bsky.social and provided by N1C Gene Registry #TreatmentForAll

'NRDC-related neurodevelopmental disorder with microcephaly and brain abnormalities' added to DDG2P. Biallelic LoF variants in NRDC cause a disorder characterised by severe DD/ID, microcephaly, seizures, eye/visual abnormalities, and joint contractures. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'FSD1L-related neurodevelopmental disorder with hydrocephalus and corpus callosum anomalies' added to DDG2P. Biallelic LoF variants in FSD1L cause a disorder characterised by severe brain malformations, severe ID, spastic tetraparesis, and epilepsy. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'JKAMP-related neurodevelopmental disorder with seizures, hypotonia, and microcephaly' added to DDG2P. Biallelic LoF variants in JKAMP cause a disorder characterised by ID, DD, seizures, hypotonia, microcephaly, and dysmorphic features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'RAB5C-related neurodevelopmental disorder ' added to DDG2P. Monoallelic DN variants in UBR5 cause a disorder characterised by developmental delay, autism, macrocephaly, facial dispmorphism, and brain imaging abnormalities. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'UBR5-related neurodevelopmental disorder' added to DDG2P. Monoallelic LoF variants in UBR5 cause a disorder characterised by developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism' added to DDG2P. Monoallelic LoF variants in EIF3B cause a disorder characterised by mild DD, cardiac defects, and craniofacial dysmorphisms. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'MDGA2-related developmental and epileptic encephalopathy with abnormal cranial MRI' added to DDG2P. Biallelic LoF variants in MDGA2 cause a disorder characterised by infantile hypotonia, severe NDD, seizures, and dysmorphic features. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus' added to DDG2P. Monoallelic LoF variants in TRIM71 cause a disorder characterised by ventriculomegaly, hydrocephalus, DD, dysmorphic features, and corpus callosum dysgenesis. See www.ebi.ac.uk/gene2phenoty...

Some important new DECIPHER features released by @deciphergenomics.bsky.social today, including a new management/therapies tab, and links to single gene disorder guides from @uniquecharity.bsky.social

'ABCC9-related intellectual disability, myopathy and white matter abnormalities' added to DDG2P. Biallelic LoF variants in ABCC9 cause a disorder characterised by NDD/ID, microcephaly, corpus callosum/white matter abnormalities, seizures and spasticity. See www.ebi.ac.uk/gene2phenoty...

'UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder' added to DDG2P. Biallelic LoF variants in UNC13A cause a disorder characterised by severe global developmental delay/intellectual disability, early-onset seizures, and hypotonia. See www.ebi.ac.uk/gene2phenoty...

'UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements' added to DDG2P. Monoallelic GoF variants in UNC13A cause a disorder characterised by global developmental delay, ID, seizures, tremor and dyskinetic movements. See www.ebi.ac.uk/gene2phenoty...

'GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy' added to DDG2P. Biallelic LoF variants in GTF3C3 cause a disorder characterised by ID, microcephaly, motor impairment, seizures and dysmorphic facial features. See www.ebi.ac.uk/gene2phenoty...

'EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism' added to DDG2P. Monoallelic LoF variants in EIF3A cause a disorder characterised by mild developmental delay and cardiac, craniofacial and behavioural abnormalities. See www.ebi.ac.uk/gene2phenoty...

'RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum' added to DDG2P. Biallelic RPS6KC1 LoF variants cause a disorder characterised by spastic paraplegia, neurodevelopmental delay, and intellectual disability. See www.ebi.ac.uk/gene2phenoty...

I'm excited to be speaking at #FOGLondon this January.

Have a question you'd like me to answer during my session? Drop it in the comments or message me, I'd love to hear your thoughts.

Further information: hubs.la/Q03JMvwd0

#FOGLondon #genomics #biodata

Machine learning method identifies evidence for developmental disorders in the G2P database An extensive collection of peer-reviewed publications describing developmental disorders has been identified and integrated into G2P to help clinicians and researchers better understand the genetic ba...

Compiling evidence of gene-disease associations from the scientific literature for rare disease diagnosis and research is essential but time consuming.
Publications identified using a new machine learning approach can now be searched and browsed in G2P.
www.ebi.ac.uk/about/news/u...

'RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency' added to DDG2P. Biallelic RBCK1 LoF variants cause a disorder characterised by childhood-onset progressive proximal muscle weakness and progressive cardiomyopathy. See www.ebi.ac.uk/gene2phenoty...

'DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia' added to DDG2P. Biallelic DOCK3 LoF variants cause a disorder characterised by GDD, intellectual disability, ataxic gait, hypotonia, and poor or absent speech. See www.ebi.ac.uk/gene2phenoty...

It was great to attend the #RAREsummit25 last week! Thank you Cambridge Rare Disease Network @camrare.bsky.social for the opportunity to present the G2P work curating genomic disease-gene relationships to accelarate diagnostics, research and development of targeted therapeutics.

'RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy' added to DDG2P. Biallelic RCC1 LoF variants cause a disorder characterised by severe, acute-onset weakness and hypotonia in children following a mild infection. See www.ebi.ac.uk/gene2phenoty...

'SF1-related neurodevelopmental disorder' added to DDG2P. Monoallelic SF1 LoF variants cause a disorder of variable severity characterised by language delay, intellectual developmental disorder, ASD, growth restriction, and non-specific dysmorphic features. See www.ebi.ac.uk/gene2phenoty...

'KNL1-related primary microcephaly' added to DDG2P. Biallic KNL1 LoF variants cause a disorder characterised by primary microcephaly, brain anomalies, global developmental delay, and moderate intellectual disability. See www.ebi.ac.uk/gene2phenoty...

'ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature' added to DDG2P. Biallic ZNF335 LoF variants cause a disorder characterised by microcephaly, epilepsy, GDD, abnormal craniofacial features, and cerebral/cerebellar atrophy. See www.ebi.ac.uk/gene2phenoty...