TSHZ3teashirt zinc finger homeobox 3
Autism Reports / Total Reports
2 / 3Rare Variants / Common Variants
5 / 0Aliases
TSHZ3, TSH3, ZNF537Associated Syndromes
-Chromosome Band
19Associated Disorders
-Relevance to Autism
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
Molecular Function
This gene encodes a zinc-finger transcription factor involved in developmental processes.
Reports related to TSHZ3 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior | Doan RN , et al. (2016) | Yes | - |
2 | Primary | TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons | Caubit X , et al. (2016) | Yes | - |
3 | Support | Postnatal Tshz3 Deletion Drives Altered Corticostriatal Function and Autism Spectrum Disorder-like Behavior | Chabbert D , et al. (2019) | No | - |
Rare Variants (5)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
- | - | copy_number_loss | Unknown | - | - | 27668656 | Caubit X , et al. (2016) | |
- | - | copy_number_loss | De novo | NA | - | 27668656 | Caubit X , et al. (2016) | |
C>T | - | intergenic_variant | - | - | Unknown | 27667684 | Doan RN , et al. (2016) | |
- | - | copy_number_loss | Familial | Paternal | - | 27668656 | Caubit X , et al. (2016) | |
- | - | copy_number_loss | Familial | Maternal | Multiplex | 27668656 | Caubit X , et al. (2016) |
Common Variants
No common variants reported.
SFARI Gene score
High Confidence


Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
Score Delta: Decreased from 4 to 1
criteria met
See SFARI Gene'scoring criteriaWe considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.
10/1/2021

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
7/1/2021

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
4/1/2021

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
1/1/2021

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
10/1/2020

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
7/1/2020

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
4/1/2020

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
1/1/2020

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
10/1/2019

Decreased from 4 to 1
New Scoring Scheme
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
Reports Added
[New Scoring Scheme]7/1/2019

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
4/1/2019

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
1/1/2019

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
10/1/2018

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
10/1/2017

Decreased from 4 to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
10/1/2016

Increased from to 1
Description
Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of ovelap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).
Krishnan Probability Score
Score 0.49300337833163
Ranking 4327/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 0.42564558200728
Ranking 5847/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94464847986306
Ranking 16158/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.33376337085124
Ranking 2234/20870 scored genes
[Show Scoring Methodology]