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| Schwannoma v0.13 | DGCR8 | Zornitza Stark Marked gene: DGCR8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannoma v0.13 | DGCR8 | Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannoma v0.11 | DGCR8 |
Chirag Patel gene: DGCR8 was added gene: DGCR8 was added to Schwannoma. Sources: Literature,Expert Review Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DGCR8 were set to PMID: 31805011 Phenotypes for gene: DGCR8 were set to Schwannoma, MONDO:0002546; Early-onset multinodular goiter and schwannomatosis, no MIM# Review for gene: DGCR8 was set to RED Added comment: 1 family with 6 affected individuals with early-onset MNG (6/6) and adult-onset schwannomatosis (5/6). Whole-exome sequencing identified a variant in DGCR8 gene (c.1552G>A; p.E518K) which segregated with disease. Copy number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumours. miRNA profiling of PTCs, MNG, schwannomas, and Wilms tumours revealed a common profile among E518K hemizygous tumours. In vitro cleavage demonstrated improper processing of pre-miRNA by DGCR8-E518K. MicroRNA and RNA profiling show that this variant disrupts precursor microRNA production, impacting populations of canonical microRNAs and mirtrons. Sources: Literature, Expert Review |
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