'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.