PanelApp (test)
  1. Genes and Genomic Entities
  2. ZBTB7A:Ensemblv115

ZBTB7A:Ensemblv115

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ZBTB7A in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)

Green ZBTB7A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769)