WDFY4WDFY family member 4
Autism Reports / Total Reports
9 / 11Rare Variants / Common Variants
16 / 0Aliases
WDFY4, C10orf64Associated Syndromes
-Chromosome Band
10q11.23Associated Disorders
-Relevance to Autism
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Molecular Function
External Links
SFARI Genomic Platforms
Reports related to WDFY4 (11 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
2 | Support | Genome-wide characteristics of de novo mutations in autism | Yuen RK et al. (2016) | Yes | - |
3 | Support | Prevalence and architecture of de novo mutations in developmental disorders | et al. (2017) | No | - |
4 | Support | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
5 | Recent Recommendation | Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity | Coe BP , et al. (2018) | No | - |
6 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
7 | Support | A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders | Suzuki T et al. (2020) | Yes | - |
8 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
9 | Support | - | Zhou X et al. (2022) | Yes | - |
10 | Support | - | Wang J et al. (2023) | Yes | - |
11 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (16)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.7414C>T | p.Arg2472Trp | missense_variant | De novo | - | - | 28135719 | et al. (2017) | |
c.7001-6C>A | - | splice_region_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.2619C>A | p.Asn873Lys | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.5941C>G | p.Pro1981Ala | missense_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.7968C>T | p.Cys2656%3D | synonymous_variant | De novo | - | - | 35982159 | Zhou X et al. (2022) | |
c.4040T>G | p.Ile1347Ser | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
c.2757G>A | p.Pro919%3D | synonymous_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.8519C>T | p.Pro2840Leu | missense_variant | De novo | - | Simplex | 27525107 | Yuen RK et al. (2016) | |
c.1454T>A | p.Met485Lys | missense_variant | De novo | - | Simplex | 32530565 | Suzuki T et al. (2020) | |
c.445G>A | p.Gly149Arg | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.908C>T | p.Ser303Leu | missense_variant | De novo | - | Multiplex | 28263302 | C Yuen RK et al. (2017) | |
c.7328C>T | p.Pro2443Leu | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) | |
c.5387C>A | p.Ala1796Asp | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.7546C>A | p.Leu2516Met | missense_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.972-1G>T | - | splice_site_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.4915del | p.Thr1639ProfsTer6 | frameshift_variant | Familial | Paternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
![](https://gene.sfari.org//wp-content/themes/sfari-gene/img/color-band/2.png)
![](https://gene.sfari.org//wp-content/themes/sfari-gene/img/color-band/s-null.png)
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Score Delta: Score remained at 2
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.
7/1/2020
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-same.png)
Score remained at 2
Description
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
10/1/2019
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-down.png)
Decreased from 3 to 2
New Scoring Scheme
Description
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Reports Added
[New Scoring Scheme]7/1/2019
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-same.png)
Decreased from 3 to 3
Description
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
1/1/2019
![icon](https://gene.sfari.org//wp-content/themes/sfari-gene/img/score-up.png)
Increased from to 3
Description
De novo missense variants in the WDFY4 gene have been identified in four probands with ASD (Iossifov et al., 2014; Yuen et al., 2016; Yuen et al., 2017) and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified WDFY4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); WDFY4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
Krishnan Probability Score
Score 0.47560107230917
Ranking 8561/25841 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94554151576874
Ranking 16511/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score 0.007773966940073
Ranking 8437/20870 scored genes
[Show Scoring Methodology]