| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rasopathy v0.105 | ERF | Zornitza Stark Marked gene: ERF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.105 | ERF | Zornitza Stark Gene: erf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.105 | ERF | Zornitza Stark Phenotypes for gene: ERF were changed from Noonan syndrome-like with or without craniosynostosis to Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.104 | ERF | Zornitza Stark reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like, MONDO:0018997, with or without craniosynostosis, ERF-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.104 | ERF | Chirag Patel Classified gene: ERF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.104 | ERF | Chirag Patel Gene: erf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.103 | ERF |
Chirag Patel gene: ERF was added gene: ERF was added to Rasopathy. Sources: Literature Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERF were set to PMID: 38824261 Phenotypes for gene: ERF were set to Noonan syndrome-like with or without craniosynostosis Review for gene: ERF was set to GREEN gene: ERF was marked as current diagnostic Added comment: ERF gene encodes a transcriptional regulator negatively controlling RAS-MAPK signalling. It has been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome (respiratory distress, skeletal anomalies, and facial dysmorphism). This paper describes 26 individuals from 15 unrelated families with Noonan-syndrome (NS) like phenotype and heterozygous nonsense and frameshift variants in ERF (most cases were familial). The clinical features included: variable global developmental and/or language delay, absolute/relative macrocephaly, short stature (<3rd centile), and dysmorphism (high forehead, hypertelorism, ptosis, wide nasal bridge, and low-set/posteriorly angulated ears). There were no individuals with typical NS cardiac involvement. Craniosynostosis was only seen in 3/26 unrelated individuals. These findings provide evidence that heterozygous loss-of-function variants in ERF cause a "RASopathy" resembling NS with or without craniosynostosis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||