ZBTB7A
Homo sapiens
Gene Name: zinc finger and BTB domain containing 7A
Aliases: FBI-1, FBI1, LRF, TIP21, ZBTB7, ZNF857A, pokemon
Chromosome No: 19
Chromosome Band: 19p13.3
Genetic Category: Syndromic-Rare single gene variant
Aliases: FBI-1, FBI1, LRF, TIP21, ZBTB7, ZNF857A, pokemon
Chromosome No: 19
Chromosome Band: 19p13.3
Genetic Category: Syndromic-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 4
Evidence score: 3
ASD Reports: 2
Recent Reports: 0
Annotated variants: 13
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
von der Lippe et al., 2021 identified 12 individuals with heterozygous variant in the ZBTB7A gene presenting with a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin; autistic features were observed in 7/12 individuals with ZBTB7A variants, five of whom were diagnosed with autism spectrum disorder.
Molecular Function
Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
DD, ID
ASD or autistic features
