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| Mendeliome v2.124 | ZRANB1 | chirag patel Marked gene: ZRANB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.124 | ZRANB1 | chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.124 | ZRANB1 | chirag patel Classified gene: ZRANB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.124 | ZRANB1 | chirag patel Gene: zranb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.123 | ZRANB1 |
chirag patel gene: ZRANB1 was added gene: ZRANB1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZRANB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZRANB1 were set to 38099646 Phenotypes for gene: ZRANB1 were set to Neurodevelopmental disorder, MONDO:0700092, ZRANB1-related Review for gene: ZRANB1 was set to AMBER Added comment: PMID 38099646 reports 2 unrelated individuals presenting with a neurodevelopmental disorder (developmental delay, ASD, microcephaly, seizures, constipation, and craniofacial anomalies). They report 2 rare heterozygous missense ZRANB1 variants but no segregation data is available. Functional assays demonstrate loss of deubiquitylating activity for p.R438W and loss of STRIPAK binding for p.A451V, and are both rescued by wild‑type Trabid. Knock‑in mouse models showed reduced neuronal and glial cell densities in the brain, motor impairment, and impaired APC trafficking in neurites. Sources: Literature |
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