Adult solid tumours cancer susceptibility

Gene: DKC1

Amber List (moderate evidence)

DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 18 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that this gene should be rated amber.
Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5

History Filter Activity

2 Aug 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: DKC1 was added gene: DKC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353