Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: DKC1

Green List (high evidence)

DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Although ataxia is a rare feature of Dyskeratosis congenita, X-linked OMIM: 305000, cerebella hyplasia is seen; especially amongst cases classified as Hoyeraal-Hreidarsson syndrome (PMID:10700698;18627054;12437656).
Created: 14 Apr 2021, 1:29 p.m. | Last Modified: 14 Apr 2021, 1:29 p.m.
Panel Version: 2.95

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Ataxia is not a prominent feature of this condition, I can only find one case report, combination of features could be coincidental.
Created: 12 Sep 2020, 3:10 a.m. | Last Modified: 12 Sep 2020, 3:10 a.m.
Panel Version: 2.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dyskeratosis congenita, X-linked, MIM# 305000

Publications

History Filter Activity

14 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DKC1 were set to 9590285; 9886310; 10921354; 33734615; 10583221

14 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DKC1 were set to 9590285; 9886310; 10921354

14 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DKC1 were changed from X-linked dyskeratosis congenita to Dyskeratosis congenita, X-linked OMIM:305000; dyskeratosis congenita, X-linked MONDO:0010584

14 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DKC1 were set to 9590285; 9886310

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DKC1 was added gene: DKC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 9590285; 9886310 Phenotypes for gene: DKC1 were set to X-linked dyskeratosis congenita