'MIR140-related spondyloepiphyseal dysplasia, Nishimura type' added to DDG2P. Monoallelic GoF variants in MIR140 cause a disorder characterised by disproportionate short stature, short limbs, small hands and feet, and midface hypoplasia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities', caused by biallelic LoF variants in WBP4, added to DDG2P. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'RNU4-2-related neurodevelopmental disorder with distinct white matter changes' added to DDG2P. Biallelic LoF variants in RNU4-2 cause a disorder characterised by GDD/ID, delayed language development and specific white matter changes. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'RNU4-2-related neurodevelopmental disorder with microcephaly and seizures (ReNU syndrome)' added to DDG2P. Monoallelic variants in RNU4-2 cause a disorder characterised by severe DD/ID, microcephaly, short stature and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'ACTL6A-related BAFopathy (developmental disorder with or without cardiac and limb anomalies)' added to DDG2P. Monoallelic LoF variants in ACTL6A cause a disorder characterised by developmental delay, and limb and cardiac anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'MYH11-related megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)' added to DDG2P. Biallelic LoF variants in MYH11 cause a disorder characterised by functional obstruction in the urinary and gastrointestinal tract. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'MYL1-related myopathy, congenital, with fast-twitch (type II) fiber atrophy', added to DDG2P. Biallelic LoF variants in MYL1 cause a disorder characterised by severe hypotonia, respiratory insufficiency, and skeletal anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'KCNB2-related neurodevelopmental disorder', added to DDG2P. Monoallelic variants in KCNB2 cause a disorder characterised by global developmental delay, intellectual disability, facial dysmorphisms, and hand and/or eye anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome (FHEIG)', caused by monoallelic variants in KCNK4, added to DDG2P. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

'GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss' added to DDG2P. Biallelic LoF variants in GTF3C5 cause a disorder characterised by DD/ID, growth restriction, and skeletal anomalies. See www.ebi.ac.uk/gene2phenoty...

It has been great to attend the Congreso Español de Medicina Genómica! Thank you for the insightful discussion about #genomics and precision medicine for the Spanish-speaking community #diversity #healthequity See Clinical genomic resources at EMBL-EBI congresogenomica.com/posters/

¡Ha sido fantastico asistir al tercer Congreso Español de Medicina Genómica! Gracias a los organizadores por los interesantes debates sobre #genómica y medicina de precisión para la comunidad hispanohablante. #diversidad #equidadensalud congresogenomica.com/posters/

'MN1-related neurodevelopmental disorder with or without cleft palate' added to DDG2P. Monoallelic LoF variants in MN1 cause a disorder characterised by intellectual disability and craniofacial anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'ZBTB7A-related developmental disorder with macrocephaly, obstructive sleep apnea, and persistent fetal hemoglobin' added to DDG2P. Monoallelic LoF variants in ZBTB7A cause a disorder characterised by macrocephaly, ID, sleep apnea, and elevated HbF. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'ATG12-related neurodevelopmental disorder with cerebellar vermis hypoplasia'' added to DDG2P. Biallelic LoF variants in ATG12 cause a disorder characterised DD, intellectual disability, ataxia, hypotonia, seizures and cerebellar vermis hypoplasia. See www.ebi.ac.uk/gene2phenoty... #RareDisease

'PSKH1-related syndromic hepatorenal ciliopathy' added to DDG2P. Biallelic variants in PSKH1 cause a disorder characterised by hepatic cholestasis, renal failure, cholestatic jaundice and abdominal distension. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene

Ensembl variantion is going to be at Genomics of Rare Disease 2026! #GRD26 Interested in knowing more about how to use Ensembl Variant Effect Predictor (VEP) to accelerate variant annotation, filtering and prioritisation? Come and say Hi 👋 at poster 017.

G2P is going to be at Genomics of Rare Disease 2026! #GRD26 Interested in knowing more about the molecular and clinical curation of gene-disease associations? Come and say Hi 👋 at poster 008.

'EIF3K-related syndromic developmental disorder with microcephaly, ear and digital anomalies' added to DDG2P. Biallelic variants in EIF3K cause a disorder characterised by microcephaly, short stature, abnormal facial features, and congenital anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease

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