ZBTB24

zinc finger and BTB domain containing 24
OMIM: 614064, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ZBTB24 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green ZBTB24 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
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 Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
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 1.0

1 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 2.0

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

Green ZBTB24 in Prepair 1000+


Level 2: Screening
Version 3.0

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

Amber ZBTB24 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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

Green ZBTB24 in Prepair 500+


Level 2: Screening
Version 3.0

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