ZBTB7Azinc finger and BTB domain containing 7A
Autism Reports / Total Reports
1 / 2Rare Variants / Common Variants
13 / 0Aliases
-Associated Syndromes
-Chromosome Band
19p13.3Associated Disorders
-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
SFARI Genomic Platforms
Reports related to ZBTB7A (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | - | von der Lippe C et al. (2022) | No | ASD or autistic features |
2 | Support | - | Zhou X et al. (2022) | Yes | - |
Rare Variants (13)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.721C>A | p.Pro241Thr | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.832G>T | p.Glu278Ter | stop_gained | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.1108C>T | p.Gln370Ter | stop_gained | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.331G>C | p.Ala111Pro | missense_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.1214C>A | p.Thr405Lys | missense_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.1354G>A | p.Asp452Asn | missense_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.1446_1447del | p.His482GlnfsTer57 | frameshift_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.167_168delinsTT | p.Ser56Ile | missense_variant | Unknown | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.859_860delinsCT | p.Ala287Leu | missense_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.983del | p.Gly328AlafsTer26 | frameshift_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.1588del | p.Arg530GlyfsTer27 | frameshift_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.1247dup | p.Val417GlyfsTer123 | frameshift_variant | De novo | - | - | 34515416 | von der Lippe C et al. (2022) | |
c.642dup | p.Asn215GlnfsTer35 | frameshift_variant | Familial | Paternal | Multiplex | 34515416 | von der Lippe C et al. (2022) |
Common Variants
No common variants reported.
SFARI Gene score
Syndromic


Score Delta: Score remained at S
criteria met
See SFARI Gene'scoring criteriaThe syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."
Krishnan Probability Score
Score 0.51527250160046
Ranking 1762/25841 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.93976817937456
Ranking 14327/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.10087771219203
Ranking 6124/20870 scored genes
[Show Scoring Methodology]