Adult solid tumours cancer susceptibility

Gene: DGCR8

Red List (low evidence)

DGCR8 (DGCR8, microprocessor complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000128191
EnsemblGeneIds (GRCh37): ENSG00000128191
OMIM: 609030, Gene2Phenotype
DGCR8 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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.
Sources: Literature
Created: 2 May 2020, 2:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Early-onset multinodular goiter and schwannomatosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Early-onset multinodular goiter and schwannomatosis
OMIM
609030
Clinvar variants
Variants in DGCR8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

2 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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