| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.10847 | RBL2 | Alison Yeung Phenotypes for gene: RBL2 were changed from Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 to Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10846 | RBL2 | Alison Yeung Classified gene: RBL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10846 | RBL2 | Alison Yeung Gene: rbl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10845 | RBL2 | Alison Yeung Phenotypes for gene: RBL2 were changed from Intellectual disability to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10836 | RBL2 | Elena Savva reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33980986, 32105419, 9806916; Phenotypes: Severe motor and cognitive impairment, Intellectual disability, Brunet-Wagner neurodevelopmental syndrome MIM#619690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3024 | RBL2 | Zornitza Stark Marked gene: RBL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3024 | RBL2 | Zornitza Stark Gene: rbl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3024 | RBL2 |
Zornitza Stark gene: RBL2 was added gene: RBL2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RBL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBL2 were set to 32105419; 9806916 Phenotypes for gene: RBL2 were set to Intellectual disability Review for gene: RBL2 was set to RED Added comment: Single family reported with pair of affected siblings. Supportive mouse model. Sources: Literature |
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