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Schwannoma

Gene: DGCR8

Red List (low evidence)
DGCR8 (DGCR8, microprocessor complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000128191
EnsemblGeneIds (GRCh37): ENSG00000128191
OMIM: 609030, Gene2Phenotype
DGCR8 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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
Created: 12 Sep 2024, 1:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schwannoma, MONDO:0002546; Early-onset multinodular goiter and schwannomatosis, no MIM#

Publications

Created: 12 Sep 2024, 1:55 a.m.

Panel version: 0.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Literature
Phenotypes
  • Schwannoma, MONDO:0002546
  • Early-onset multinodular goiter and schwannomatosis, no MIM#
OMIM
609030
Clinvar variants
Variants in DGCR8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dgcr8 has been classified as Red List (Low Evidence).

12 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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