ZBTB24

zinc finger and BTB domain containing 24
OMIM: 614064, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ZBTB24 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069
  • MONDO:0013553

Green ZBTB24 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069
  • MONDO:0013553

Green ZBTB24 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069
    • Facial dysmorphic features
    • developmental delay
    • macroglossia
    • bacterial/opportunistic infections
    • malabsorption
    • cytopaenia
    • malignancies
    • multiradial configurations of chromosomes 1, 9, 16
    • Hypogammaglobulinaemia or agammaglobulinaemia
    • variable antibody deficiency

    Green ZBTB24 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 2
    • OMIM # 614069

    Green ZBTB24 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)

    Red ZBTB24 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069

    Green ZBTB24 in Growth failure


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069
    • MONDO:0013553

    Green ZBTB24 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069

    Green ZBTB24 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)

    Amber ZBTB24 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069
    Tags
    • treatable
    • immunological

    Green ZBTB24 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)