DKC1

dyskerin pseudouridine synthase 1
OMIM: 300126, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green DKC1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, X-linked 305000
    • Hoyeraal-Hreidarsson Syndrome

    Green DKC1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

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

    Green DKC1 in Inflammatory bowel disease


    Level 2: Gastroenterological disorders
    Version 0.124

    Component of the following Super Panels:

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

    Green DKC1 in Mendeliome


    Version 1.2374

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, X-linked 305000
    • Hoyeraal-Hreidarsson Syndrome

    Green DKC1 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 0.87

    review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green DKC1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DKC1 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review 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

    Green DKC1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • DKC1-related disorder MONDO:0100152

    Green DKC1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Dyskeratosis congenita, X-linked, 305000 (3)

    Amber DKC1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Dyskeratosis congenita

    Red DKC1 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, X-linked 305000
    • Hoyeraal-Hreidarsson Syndrome

    Green DKC1 in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Dyskeratosis congenita, X-linked MIM#305000
    • Hoyeraal-Hreidarsson syndrome (HHS)

    Green DKC1 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hoyeraal-Hreidarsson Syndrome
    • Dyskeratosis congenita, X-linked 305000

    Green DKC1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Dyskeratosis congenita, X-linked MIM#305000

    Red DKC1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • BabySeq Category B gene
    • BeginNGS
    Phenotypes
    • Dyskeratosis congenita, X-linked, MIM# 305000

    Green DKC1 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Dyskeratosis congenita, X-linked, 305000 (3)