Adult solid tumours cancer susceptibilityGene: DGCR8
Comment on list classification: New gene added by Zornitza Stark. Added as a Red gene.
Created: 17 Jun 2020, 1:36 p.m. | Last Modified: 17 Jun 2020, 1:36 p.m.
Panel Version: 2.4
A germline missense variant segregates in one family with autosomal dominant Mendelian tumour susceptibility syndrome: familial multinodular goitre (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour.
Created: 2 May 2020, 2:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset multinodular goiter and schwannomatosis
Gene: dgcr8 has been classified as Red List (Low Evidence).
gene: DGCR8 was added gene: DGCR8 was added to Adult solid tumours cancer susceptibility. Sources: Literature Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DGCR8 were set to 31805011 Phenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis Review for gene: DGCR8 was set to RED