ZBTB7A

zinc finger and BTB domain containing 7A
OMIM: 605878, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ZBTB7A in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.120

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769
Red ZBTB7A in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • ZBTB7A-associated developmental disorder
    Green ZBTB7A in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Other
    • Literature
    Phenotypes
    • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769