Combined Immunodeficiency
Gene: DKC1

DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 16 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

More than 20 affected unrelated individuals have been reported; multiple mouse models.

Heterozygous deletion variants and missense variants have been identified in DKC1 in these individuals, including the most common p.Ala353Val.

Typically presents with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure and immunodeficiencies.

PMID: 9663235 (1998) partial expression in heterozygous females displayed early pigmentary skin changes
Created: 22 Jul 2021, 6:11 a.m. | Last Modified: 22 Jul 2021, 6:56 a.m.

Panel Version: 0.229

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

Phenotypes
Dyskeratosis congenita, X-linked MIM# 305000; Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, immunodeficiency; aplastic anaemia; thrombocytopaenia; neurodevelopmental delay; cerebellar hypoplasia; opportunistic infections

Publications

Created: 22 Jul 2021, 6:11 a.m.
Last Modified: 22 Jul 2021, 6:56 a.m.
Panel version: 0.216

Details

Mode of Inheritance

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

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Dyskeratosis congenita, X-linked MIM# 305000
Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
microcephaly, immunodeficiency
aplastic anaemia
thrombocytopaenia
neurodevelopmental delay
cerebellar hypoplasia
opportunistic infections

OMIM

300126

Clinvar variants

Variants in DKC1

Penetrance

None

Publications

Panels with this gene