Genomics England

DKC1

dyskerin pseudouridine synthase 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Dyskeratosis congenita, X-linked OMIM:305000, dyskeratosis congenita, X-linked MONDO:0010584
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	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 3.1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes DYSKERATOSIS CONGENITA, X-LINKED, 305000, DKC1-RELATED DYSKERATOSIS CONGENITA 314912
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes DYSKERATOSIS CONGENITA, X-LINKED, DKC1-RELATED DYSKERATOSIS CONGENITA
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Dyskeratosis congenita, X-linked, 305000, DKC1-RELATED DYSKERATOSIS CONGENITA
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes DKCX, DYSKERATOSIS CONGENITA, X-LINKED, Dyskeratosis congenita
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.0	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
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Dyskeratosis congenita, X-linked, OMIM:305000