G2P
@gene2phenotype.bsky.social
G2P (https://www.ebi.ac.uk/gene2phenotype/) is managed by EMBL’s European Bioinformatics Institute (EMBL-EBI)
'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...
December 18, 2025 at 10:35 AM
'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...
December 11, 2025 at 12:57 PM
'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...
December 4, 2025 at 10:07 AM
'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...
Reposted by G2P
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
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
December 3, 2025 at 10:17 AM
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
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...
Publications identified using a new machine learning approach can now be searched and browsed in G2P.
www.ebi.ac.uk/about/news/u...
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...
www.ebi.ac.uk
November 27, 2025 at 2:02 PM
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...
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...
November 27, 2025 at 10:23 AM
'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...
November 20, 2025 at 11:47 AM
'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.
November 13, 2025 at 11:33 AM
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...
November 13, 2025 at 11:01 AM
'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...
November 6, 2025 at 9:02 AM
'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...
October 30, 2025 at 12:09 PM
'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...
October 23, 2025 at 9:35 AM
'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...
October 16, 2025 at 8:35 AM
'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...
October 9, 2025 at 11:47 AM
'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...
October 2, 2025 at 9:11 AM
'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...
September 25, 2025 at 10:47 AM
'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...
September 18, 2025 at 11:20 AM
'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...
September 11, 2025 at 11:56 AM
'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...
September 4, 2025 at 9:24 AM
'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...
See www.ebi.ac.uk/gene2phenoty...
August 28, 2025 at 7:34 AM
'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...
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...
August 20, 2025 at 1:55 PM
'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...
August 14, 2025 at 10:15 AM
'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...
August 8, 2025 at 3:32 PM
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...
July 31, 2025 at 12:24 PM
'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...
July 24, 2025 at 9:25 AM
'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...