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| Mendeliome v1.1900 | RBBP5 | Ain Roesley Marked gene: RBBP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1900 | RBBP5 | Ain Roesley Gene: rbbp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1900 | RBBP5 |
Ain Roesley changed review comment from: 5x Indivis (4x de novo) = 3x PTCs + 2x missense 4/5 dev delay/ID 2/5 short stature (<=-3 SD) + 2/5 <= -2 SD 1/5 microcephaly (< -3 SD) + 3/5 <= -2 SD 2/5 SNHL 2/5 seizures 3/5 hypotonia; to: 5x Indivs (4x de novo) = 3x PTCs + 2x missense 4/5 dev delay/ID 2/5 short stature (<=-3 SD) + 2/5 <= -2 SD 1/5 microcephaly (< -3 SD) + 3/5 <= -2 SD 2/5 SNHL 2/5 seizures 3/5 hypotonia |
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| Mendeliome v1.1896 | RBBP5 | Ain Roesley Classified gene: RBBP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1896 | RBBP5 | Ain Roesley Gene: rbbp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1895 | RBBP5 |
Ain Roesley commented on gene: RBBP5: 5x Indivis (4x de novo) = 3x PTCs + 2x missense 4/5 dev delay/ID 2/5 short stature (<=-3 SD) + 2/5 <= -2 SD 1/5 microcephaly (< -3 SD) + 3/5 <= -2 SD 2/5 SNHL 2/5 seizures 3/5 hypotonia |
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| Mendeliome v1.1895 | RBBP5 | Ain Roesley Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1895 | RBBP5 |
Ain Roesley gene: RBBP5 was added gene: RBBP5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBBP5 were set to 39036895 Phenotypes for gene: RBBP5 were set to neurodevelopmental disorder MONDO:0700092, RBBP5-related Review for gene: RBBP5 was set to GREEN gene: RBBP5 was marked as current diagnostic Added comment: 5 individuals with de novo variants - 3x PTCs + 2x missense 2/5 short stature (> 3SD; 2x >=-2SD) 1/5 microcephaly (> 3SD; 3x >=-2SD) 4/5 dev delay/ID 2/5 SNHL 2/5 Seizures 3/5 hypotonia Sources: Literature |
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