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VAV3 (VAV guanine nucleotide exchange factor 3) (605541) |
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1.
Autism: de novo c.2305C > G (NM_006113.5); p.P769A (NP_006104.4) (Neale et al., 2012; Turner et al., 2019)
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2.
Autism spectrum disorder: de novo c.1009delC (NM_006113.5); p.L337Sfs*18 (NP_006104.4) (Iossifov et al., 2014; Li et al., 2017)
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3.
Autism spectrum disorder, increased risk of: de novo c.758A > G (NM_006113.5); p.H253R (NP_006104.4) (Lim et al., 2017)
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4.
Developmental disorder: de novo c.1897C > T (NM_006113.5); p.H633Y (NP_006104.4) (Turner et al., 2019)
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5.
Schizophrenia: de novo c.2222A > G (NM_006113.5); p.E741G (NP_006104.4) (Aleksic et al., 2013)
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6.
In mice, knocking out the Vav3 gene produces broad physiological changes due to significant issues with sympathetic nervous system modulation (SNS). This is because Vav3 is involved in the formation of appropriate inhibitory GABAergic circuitry between the caudal (CVLM) and rostral (RVLM) ventrolateral medullas in the brainstem (Sauzeau et al., 2010; Rodriguez-Fdez et al., 2021)
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7.
In the postnatal stage, Vav3 mice display significant motor coordination and gaiting impairments. These findings suggest that Vav3 function is important for the cerebellum’s timely development (Quevedo et al., 2010)
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1.
RAC1 (Movilla and Bustelo, 1999): developmental delay, brain malformation, microcephaly (Reijnders et al., 2017), intellectual disability (Lelieveld et al., 2016; Reijnders et al., 2017)
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2.
EGFR (Erdem-Eraslan et al., 2015): autism spectrum disorder (Iossifov et al., 2014; Kosmicki et al., 2017)
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3.
IGF1R (Zeng et al., 2000): short stature, intellectual disability, microcephaly, hypotonia, lack of speech (Uehara et al., 2016)
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4.
ZRANB1 (Luck et al., 2020): developmental disorder (Deciphering Developmental Disorders, 2017; Kosmicki et al., 2017; Turner et al., 2019)
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5.
TARDBP (Muller et al., 2020): amyotrophic lateral sclerosis (Kabashi et al., 2008; Sreedharan et al., 2008)
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| 2 |
WDR47 (WD repeat-containing protein 47) (615734) |
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1.
Autism spectrum disorder: de novo c.991_992delAT (NM_014969.6); p.I331Ffs*16 (NP_055784.3) (Callaghan et al., 2019)
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2.
The neuroanatomical deficits associated with Wdr47 KO cause hyperactivity and inappropriate sensory motor gating in both male and female mice (Kannan et al., 2017).
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3.
The overall brain size of Wdr47tm1a/tm1a mice was reduced, indicating initial microcephaly that worsened postnatally (Kannan et al., 2017).
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4.
Mutations in 27 WDR genes (∼9 %) have been linked to brain disorders especially intellectual disability related to corpus callosum defects (Kannan et al., 2017).
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1.
TCF4 (Li et al., 2015): Pitt-Hopkins syndrome with neurodevelopmental phenotypes (Amiel et al., 2007; Zweier et al., 2007), intellectual disability (Mary et al., 2018)
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2.
ANGPTL4 (Huttlin et al., 2021): autism spectrum disorder (Iossifov et al., 2014), developmental disorder (Turner et al., 2019)
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3.
DYRK1A (Guard et al., 2019): autism spectrum disorder (Guo et al., 2018), microcephaly, intellectual disability, speech impairment and distinct facial features (Ji et al., 2015)
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4.
RAB11FIP5 (Huttlin et al., 2021): autism spectrum disorder (Roohi et al., 2008; Matsunami et al., 2014), autism (Yuen et al., 2016)
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5.
STRN (Huttlin et al., 2021): autism spectrum disorder (Kosmicki et al., 2017; Lim et al., 2017; Satterstrom et al., 2020), bipolar disorder (Toma et al., 2020)
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6.
KRAS (Martin et al., 2017): Noonan syndrome (Schubbert et al., 2006; Zenker et al., 2007; Leventopoulos et al., 2010; Turro et al., 2020; Ando et al., 2021), intellectual disability and multiple congenital abnormalities (Vergult et al., 2014), neurodevelopmental disorder (Popp et al., 2017)
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| 3 |
ELAPOR1 (Endosome-lysosome-associated apoptosis and autophagy regulator 1) (611298) |
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1.
OSBPL3 (Huttlin et al., 2021): autism (Turner et al., 2019)
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2.
DDX58 (Wu et al., 2020): autism spectrum disorder (Iossifov et al., 2014; Lim et al., 2017), autism (Turner et al., 2019)
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3.
ADAM15 (Huttlin et al., 2021): autism spectrum disorder (Lim et al., 2017)
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4.
ATP13A1 (Huttlin et al., 2021): developmental disorder (Tran Mau-Them et al., 2020), intellectual disability (Anazi et al., 2017; Kahrizi et al., 2019)
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5.
ATP6AP2 (Huttlin et al., 2021): mental retardation and epilepsy (Ramser et al., 2005; Al-Nabhani et al., 2018), developmental disorder (Turner et al., 2019), intellectual disability, epilepsy and parkinsonism (Gupta et al., 2015), mental retardation (Buysse et al., 2009), neurodevelopmental disorder (Zhang et al., 2021)
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6.
CNTNAP3 (Huttlin et al., 2021): autism spectrum disorder (An et al., 2014; Le et al., 2019), simplex autism (Turner et al., 2017)
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| 4 |
GSTM5 (Glutathione S-Transferase Mu 5) (138385) |
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1.
GSTM5 belongs to the glutathione S-transferase enzyme family. GSTM5 is located in the brain and metabolizes a wide range of substances, both exogenous and endogenous (Eaton and Bammler, 1999)
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2.
GSTs (Glutathione S-transferases), which are involved in the glutathione metabolism pathway and include GstA3, Gstm1, Gstm5, Gstm3, Gstk1, and Gstp1, have been identified as risk factors for Alzheimer’s disease (Lin et al., 2017)
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3.
Polymorphisms in GSTM5 predicted microRNA binding sites were associated with Parkinson’s disease diagnosis age (Searles Nielsen et al., 2013)
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4.
KO mouse phenotypes associated with decreased exploration in new environment: http://www.informatics.jax.org/diseasePortal/genoCluster/view/44861
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1.
ERLIN2 (Huttlin et al., 2021): spastic paraplegia (Morais et al., 2017; D’Amore et al., 2018; Rydning et al., 2018; Travaglini et al., 2018; Wright et al., 2018; Park et al., 2020), intellectual disability(Najmabadi et al., 2011; Hu et al., 2019), motor dysfunction and joint contractures (Yildirim et al., 2011)
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2.
ARFGAP1 (Huttlin et al., 2021) : autism spectrum disorder (Satterstrom et al., 2020)
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3.
AGPAT1 (Huttlin et al., 2021) : autism spectrum disorder (Callaghan et al., 2019)
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4.
CDC42 (Silva et al., 2019): intellectual disability, brain malformations, and facial dysmorphism (Martinelli et al., 2018), Noonan-like syndrome (Martinelli et al., 2018), epileptic encephalopathy with infantile spasms (Helbig et al., 2016; Martinelli et al., 2018), intellectual disability, brain malformations, and platelet anomalies (Martinelli et al., 2018), facial dysmorphism, neurodevelopmental delay (Szczawinska-Poplonyk et al., 2020), schizophrenia (Gilks et al., 2012)
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5.
GPKOW (Luck et al., 2020): autism spectrum disorder (Al-Mubarak et al., 2017), microcephaly and intrauterine growth restriction (Carroll et al., 2017)
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| 5 |
LRIF1 (Ligand-dependent nuclear receptor-interacting factor 1) (1615354) |
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1.
PLEKHA4 (Shami Shah et al., 2019): autism spectrum disorder (Iossifov et al., 2014; Lim et al., 2017), autism (Hashimoto et al., 2016; Turner et al., 2019)
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2.
CBX5 (Luck et al., 2020): autism spectrum disorder (Satterstrom et al., 2020), developmental disorder (Deciphering Developmental Disorders, 2017), schizophrenia (Gulsuner et al., 2013)
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3.
RARA (Li et al., 2007): autism spectrum disorder (Iossifov et al., 2014)
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4.
AHDC1 (Marcon et al., 2014): syndromic expressive language delay, hypotonia & sleep apnoea (Xia et al., 2014), Xia-Gibbs syndrome (Garcia-Acero and Acosta, 2017; Jiang et al., 2018; Wang et al., 2020; Faergeman et al., 2021), neurodevelopmental disorder (Wang et al., 2020), intellectual disability and developmental delay (Yang et al., 2015; Pekeles et al., 2019), autism spectrum disorder (Iossifov et al., 2014; Kosmicki et al., 2017; Lim et al., 2017), moderate intellectual disability, speech delay, macrocephaly, facial dysmorphism, cleft palate, hypertelorism & macrocrania (Bowling et al., 2017; Jiang et al., 2018)
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5.
PQBP1 (Stelzl et al., 2005): mental retardation (Kalscheuer et al., 2003; Lenski et al., 2004; Jensen et al., 2011; Rahman et al., 2019), intellectual disability (Redin et al., 2014; Grozeva et al., 2015; Hu et al., 2016; Abdel-Salam et al., 2018), microcephaly (Shaheen et al., 2019)
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6.
SETD1B (Goehler et al., 2004): intellectual disability and seizures (Brunet et al., 2021; Roston et al., 2021), Intellectual disability, developmental delay, epilepsy, language disorder, autism, facial dysmorphism (Palumbo et al., 2015; Faundes et al., 2018; Hiraide et al., 2018, 2019, 2021), autism spectrum disorder (Iossifov et al., 2014; Satterstrom et al., 2020), Developmental and epileptic encephalopathy (Takata et al., 2019), schizophrenia (Wang et al., 2015)
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7.
CDC42 (Stelzl et al., 2005): intellectual disability, brain malformations, and facial dysmorphism (Martinelli et al., 2018), Noonan-like syndrome (Martinelli et al., 2018), epileptic encephalopathy with infantile spasms (Helbig et al., 2016; Martinelli et al., 2018), intellectual disability, brain malformations, and platelet anomalies (Martinelli et al., 2018), facial dysmorphism, neurodevelopmental delay (Szczawinska-Poplonyk et al., 2020), schizophrenia (Gilks et al., 2012)
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8.
ATP1B1 (Stelzl et al., 2005): intellectual disability & self-mutilation (Liu et al., 2015), autism(Iossifov et al., 2012; Iossifov et al., 2014; Uddin et al., 2014), autism spectrum disorder (Lim et al., 2017; Turner et al., 2019), intellectual disability (Liu et al., 2015), schizophrenia (Purcell et al., 2014)
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9.
CHD3 (Goehler et al., 2004): neurodevelopmental syndrome with macrocephaly, impaired speech and language (Snijders Blok et al., 2019), developmental disorder (Deciphering Developmental Disorders, 2017; Kosmicki et al., 2017; Snijders Blok et al., 2019; Turner et al., 2019), autism (Iossifov et al., 2014; Yuen et al., 2016; Kosmicki et al., 2017; Turner et al., 2019), autism spectrum disorder (Wang et al., 2016; Lim et al., 2017; Cappi et al., 2020; Satterstrom et al., 2020)
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10.
CHD4 (Marcon et al., 2014): Sifrim-Hitz-Weiss syndrome (Weiss et al., 2020), neurodevelopmental disorder (Trinh et al., 2019), intellectual disability (Weiss et al., 2016, 2020), developmental disorder (Deciphering Developmental Disorders, 2017; Turner et al., 2019; Weiss et al., 2020), autism spectrum disorder (Iossifov et al., 2014; Wang et al., 2016; Kosmicki et al., 2017), intellectual disability, macrocephaly, hyperlaxity of finger joints and hearing loss (Monroe et al., 2016; Weiss et al., 2016), schizophrenia (Girard et al., 2011; Li et al., 2016)
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