DKC1

dyskerin pseudouridine synthase 1
OMIM: 300126
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked dyskeratosis congenita
R-numbers: R91
Signed-off version 1.29
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked, 305000, 305000 Dyskeratosis congenita, Dyskeratosis congenita
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DYSKERATOSIS CONGENITA, X-LINKED, 305000, DKC1-RELATED DYSKERATOSIS CONGENITA 314912
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DYSKERATOSIS CONGENITA, X-LINKED, DKC1-RELATED DYSKERATOSIS CONGENITA
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Class: BM failure syndrome (typ AR), Dyskeratosis congenita, MDS, AML, Bone marrow failure, macrocytosis, Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked, 305000, DKC1-RELATED DYSKERATOSIS CONGENITA
R-numbers: R236
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DKCX, DYSKERATOSIS CONGENITA, X-LINKED, Dyskeratosis congenita
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson syndrome, Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections, Severe phenotype with DD and cerebellar hypoplasia, Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients, Combined immunodeficiencies with associated or syndromic features