Cerebellar hypoplasia

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: cerebellar hypoplasia is a feature of Hoyeraal-Hreidarsson syndrome which is a severe form of dyskeratosis congenita
Created: 14 Nov 2016, 10:53 a.m.

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

Phenotypes
X-linked dyskeratosis congenita

Publications

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

2 Feb 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DKC1 were set to 9590285;9886310

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

DKC1 was added to Cerebellar hypoplasiapanel. Sources: Emory Genetics Laboratory,Literature,Radboud University Medical Center, Nijmegen,UKGTN

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

DKC1 was created by agardham