'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

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...

'CAPN15-related oculogastrointestinal neurodevelopmental syndrome' added to DDG2P. Biallic CAPN15 LoF variants cause a disorder characterised by GDD, short stature, microphthalmia and/or coloboma, cardiac defects, renal abnormalities, and imperforate anus. See www.ebi.ac.uk/gene2phenoty...

'TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' added to DDG2P. Biallic TRAPPC6B LoF variants cause a disorder characterised by microcephaly, GDD/ID, epilepsy, absent expressive language, and movement disorders. See www.ebi.ac.uk/gene2phenoty...

'WDR83OS-related neurodevelopmental disorder with hypercholanemia' added to DDG2P. Biallic WDR83OS LoF variants cause a disorder characterised by developmental delay, intellectual disability, hypotonia, facial dysmorphism, pruritus, and elevated bile acids. See www.ebi.ac.uk/gene2phenoty...

'MAP3K20-related centronuclear myopathy' added to DDG2P. Biallic MAP3K20 LoF variants cause a disorder characterised by generalised slowly progressive muscle weakness of neonatal or childhood onset with decreased vital capacities. See www.ebi.ac.uk/gene2phenoty...

'DDX17-related neurodevelopmental disorder ' added to DDG2P. Monoallelic DDX17 LoF variants cause a disorder characterised by mild-to-moderate intellectual disability, delayed speech and language development, and global developmental delay. See www.ebi.ac.uk/gene2phenoty...

'TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations' added to DDG2P. Biallelic TM2D3 LoF variants cause a disorder characterised by severe GDD, absent speech, microcephaly, heart malformation, and dysmorphic facial features. See www.ebi.ac.uk/gene2phenoty...

'DRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome)' added to DDG2P. Biallelic DRG1 LoF variants cause a disorder characterised by GDD, failure to thrive, microcephaly, ID, and craniofacial anomalies. See www.ebi.ac.uk/gene2phenoty...

'SPTSSA-related complex hereditary spastic paraplegia' added to DDG2P. Monoallelic SPTSSA GoF variants cause a disorder characterised by progressive progressive motor disturbance with variable sensorineural hearing loss and language/cognitive dysfunction. See www.ebi.ac.uk/gene2phenoty...

'RFX family-related neurodevelopmental disorder with autism and other behavioural abnormalities' added to DDG2P. Monoallelic variants in RFX3, RFX4, and RFX7 cause a disorder characterised by autism, ADHD, intellectual disability, and dysregulated behavior. See www.ebi.ac.uk/gene2phenoty...

'RYBP-related neurodevelopmental disorder with congenital anomalies' added to DDG2P. Monoallelic RYBP variants cause a disorder characterised by severe developmental delay, dysmorphisms, and multiple congenital anomalies. See www.ebi.ac.uk/gene2phenoty...

RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies' added to DDG2P. Monoallelic RNU5B-1 variants cause a disorder characterised by GDD, hypotonia, macrocephaly, ocular abnormalities and failure to thrive. See www.ebi.ac.uk/gene2phenoty...

'FEZF2-related neurodevelopmental disorder' added to DDG2P. Monoallelic FEZF2 LoF variants cause a disorder characterised by neurobehavioral features including ASD, developmental delay, ID, learning difficulties, and/or attention issues. See www.ebi.ac.uk/gene2phenoty...

'WDR44-related ciliopathy' added to DDG2P. Monoallelic X-linked hemizygous WDR44 GoF variants cause a disorder characterised by neurodevelopmental delay, hypotonia, distinct craniofacial features, and structural brain abnormalities. See www.ebi.ac.uk/gene2phenoty...

G2P is going to be at ISMB/ECCB 2025 @iscb.bsky.social in Liverpool! Come say Hi 👋 at poster A-540 at the VarI: Variant Interpretation track. #ISMBECCB2025

FASTKD5-related Leigh syndrome added to DDG2P. Biallelic FASTKD5 LoF variants cause an early- to late-onset Leigh syndrome associated with complex IV deficiency. www.ebi.ac.uk/gene2phenoty...

'UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment' added to DDG2P. Biallelic UGGT1 LoF variants cause a disorder characterised by developmental delay, intellectual disability, seizures, craniofacial dysmorphism, and microcephaly. See www.ebi.ac.uk/gene2phenoty...

Explore latest DECIPHER (@deciphergenomics.bsky.socia) release version 11.30 and new features at www.deciphergenomics.org

DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

We have launched an updated Gene2Phenotype website with a fresh new look. We now support more detailed disease mechanism information in our expert-curated gene-disease models. Available at www.ebi.ac.uk/gene2phenotype.