1. Genes and Genomic Entities
  2. DKC1

DKC1

dyskerin pseudouridine synthase 1
OMIM: 300126, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels
Amber DKC1 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hoyeraal Hreidarsson Syndrome
  • Dyskeratosis congenita, X-linked
Green DKC1 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Curated sources
  • Expert Review Green
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 DKC1 in COVID-19 research


Level 2: Viral research
Version 1.142

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Dyskeratosis congenita, X-linked 305000
  • Severe phenotype with DD and cerebellar hypoplasia
  • Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
  • 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
Green DKC1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Dyskeratosis congenita, X-linked, 305000
  • Dyskeratosis congenita associated with pulmonary fibrosis
Green DKC1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Dyskeratosis congenita, X-linked OMIM:305000
    • dyskeratosis congenita, X-linked MONDO:0010584
    Amber DKC1 in Childhood solid tumours

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 4.18
    Latest signed off version: v4.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 6, 616353
    Green DKC1 in Pigmentary skin disorders


    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • DKCX
    • DYSKERATOSIS CONGENITA, X-LINKED
    • Dyskeratosis congenita
    Red DKC1 in Ductal plate malformation


    Version 1.29

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dyskeratosis congenita, X-linked (305000)
    Green DKC1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • Expert Review Green
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • ESID Registry 20171117
    • GRID V2.0
    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 DKC1 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Eligibility statement prior genetic testing
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Dyskeratosis congenita
    • Dyskeratosis congenita, X-linked, 305000
    Amber DKC1 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 6, 616353
    Green DKC1 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Curated sources
    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
    Red DKC1 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • 305000 Dyskeratosis congenita, X-linked
    Green DKC1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Literature
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • X-linked dyskeratosis congenita
    Green DKC1 in Cytopenia - NOT Fanconi anaemia


    Version 3.34
    Latest signed off version: v3.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Dyskeratosis congenita, X-linked, 305000
    • 305000 Dyskeratosis congenita
    • Dyskeratosis congenita
    Green DKC1 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DYSKERATOSIS CONGENITA, X-LINKED
    • DKC1-RELATED DYSKERATOSIS CONGENITA
    Green DKC1 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DYSKERATOSIS CONGENITA, X-LINKED, 305000
    • DKC1-RELATED DYSKERATOSIS CONGENITA 314912
    Green DKC1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Dyskeratosis congenita, X-linked, 305000
    • DKC1-RELATED DYSKERATOSIS CONGENITA
    Red DKC1 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • steroid-resistant 6 nephrotic syndrome
    • cataracts (prior to steroid treatment)
    • sensorineural deafness
    • enterocolitis
    Red DKC1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green DKC1 in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dyskeratosis congenita, X-linked, 305000
    Green DKC1 in Pulmonary fibrosis familial

    Level 3: Interstitial lung disorders
    Level 2: Respiratory disorders
    Version 1.7
    Latest signed off version: v1.3 (30 Nov 2022)

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • Dyskeratosis congenita, X-linked, OMIM:305000