Activity
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| Fetal anomalies v7.7 | RNF2 | Ida Ertmanska Classified gene: RNF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v7.7 | RNF2 | Ida Ertmanska Added comment: Comment on list classification: There are now 6 unrelated individuals reported in literature with heterozygous variants (mostly de novo missense) and Luo-Schoch-Yamamoto syndrome. Prenatal complications were present in all 6 patients. Hence, this gene will be recommended for promotion to Green once PMID:40831499 is published. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v7.7 | RNF2 | Ida Ertmanska Gene: rnf2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v7.6 | RNF2 |
Ida Ertmanska gene: RNF2 was added gene: RNF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF2 were set to 33864376; 40831499 Phenotypes for gene: RNF2 were set to Luo-Schoch-Yamamoto syndrome, OMIM:619460; Luo-Schoch-Yamamoto syndrome, MONDO:0859171 Review for gene: RNF2 was set to GREEN Added comment: PMID: 40831499 Ryan et al., 2025 - PRE-PRINT identified 3 monoallelic RNF2 variants in 4 unrelated individuals: c.245G>T (p.S82I) (in 2 unrelated cases), c.796A>T (p.R266W), and c.472C>T (p.R158*). 3 cases were confirmed to be de novo. Patients were age 21 months - 7 yrs at examination. All 4 patients had prenatal complications (IUGR, oligohydramnios, polyhydramnios), gastrointestinal and feeding difficulties, and dysmorphic features. Cardiovascular anomalies detected in 3/4 individuals, 2 had hearing loss. Neurological symptoms: hypotonia (3/4), seizures (1/3), spasticity (2/4), developmental delay and intellectual disability (3/4). PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles. Sources: Literature |
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