NuRD |
CHD3
|
CHD3 |
Snyders Blok-Campeau Syndrome |
Missense, nonsense, frameshift, deletion, splice-site variant |
ID, DD, delayed myelination, macrocephaly/microcephaly |
Drivas et al. (2020); Snijders Blok et al., 2018
|
|
CHD4
|
CHD4 |
Sifrim-Hitz-Weiss syndrome (SIHIWES) |
Missense, in-frame deletions, nonsense |
ID, DD, macrocephaly, hydrocephalus, thin corpus callosum, |
Farnung et al. (2020); Weiss et al. (2020)
|
|
CHD5
|
CHD5 |
Autism-like |
Missense |
DD, cerebral palsy, speech impairment |
http://www.mygene2.org [03 October 2020 accessed] |
|
MBD2/3
|
MBD2/3 |
Autism |
SNPs |
|
Cukier et al. (2009); Li et al. (2005)
|
|
HDAC1/2
|
HDAC1/2 |
Schizophrenia, Angelman syndrome |
– |
ID, DD |
Jamal et al. (2017); Schroeder et al. (2017); Sharma et al. (2008)
|
|
GATAD2B
|
GATAD2B |
GATAD2B-associated neurodevelopmental disorder (GAND) |
Deletion, frameshift, nonsense, splice-site, missense |
ID, DD, macrocephaly, thin corpus callosum, widened CSF spaces, hypomyelination |
de Ligt et al. (2012); Hamdan et al. (2014); Luo et al, 2017; Shieh et al. (2020); Ueda et al. (2019); Willemsen et al. (2013)
|
|
KDM1A
|
KDM1A |
Kabuki and KBG-like syndrome |
Missense, nonsense, splice-variant, nonsense |
ID, DD, thin corpus callosum, delayed myelination, cerebellar defects |
Chong et al., 2015; Rauch et al. (2012); Tunovic et al. (2014)
|
BAF |
ARIDla
|
BAF250A |
Coffin Siris Syndrome |
Nonsense, frameshift indel, missense |
CNS structural abnormalities |
Bramswig et al. (2017); Tsurusaki et al. (2012); Wieczorek et al. (2013)
|
|
SMARCA4
|
BRG1 |
|
|
|
|
|
SMARCE1
|
BAF57 |
|
|
|
|
|
ARID2
|
BAF200 |
|
|
|
|
|
SMARCA2
|
BRM |
Coffin Siris syndrome, Nicolaides-Baraitser syndrome, Schizophrenia |
Partial deletion, missense, intronic alteration, duplication |
CNS structural abnormalities, ID, microcephaly, behavioural problems and seizures, delusions, thought disorder, cognitive dysfunction |
Ejaz et al. (2016); Miyake et al., 2014; Sousa et al. (2014); Wolff et al., 2012
|
|
SMARCB1
|
BAF47 |
Coffin Siris Syndrome, Kleefstra syndrome |
In-frame deletion, missense |
CNS structural abnormalities, ID, behavioural anomalies |
Kleefstra et al., 2012; Santen et al., 2013; Tsurusaki et al. (2012); Wieczorek et al., 2013
|
|
ARIDlb
|
BAF250B |
Coffin Siris Syndrome, ID, Hirschsprung’s disease, Schizophrenia, Autism, 6q25 Microdeletion Syndrome |
Missense, nonsense, frameshift indel, translocation, microdeletion, interstitial deletion |
CNS structural abnormalities, developmental delay, epilepsy, and hypoplasia of the corpus callosum and cerebellum, delusions, thought disorder, cognitive dysfunction, defects in social and communication skills, restricted and repetitive behaviour, corpus callosum agenesis |
Backx et al. (2011); Halgren et al. (2012); Santen et al., 2013; Takenouchi et al. (2016), Ronzoni et al. (2016)
|
|
SMARCD1
|
BAF60 |
Coffin Siris Syndrome, Nicolaides-Baraitser syndrome |
Missense, nonsense |
CNS structural abnormalities, ID, microcephaly, behavioural problems and seizures |
Machol et al. (2019); Nixon et al., 2019
|
|
SMARCC1
|
BAF155 |
Autism |
Missense |
Defects in social and communication skills, restricted and repetitive behaviour |
Neale et al. (2013); O’Roak et al. (2012)
|
|
PBRM
|
BAF180a |
Autism |
Missense |
|
|
|
ACTL6b
|
BAF53b |
Autism |
Missense |
Defects in social and communication skills, restricted and repetitive behaviour |
Bell et al. (2019); Wenderski et al. (2020)
|
|
ACTL6b
|
BAF53b |
DECAM syndrome |
– |
Developmental delay, Epileptic encephalopathy, Cerebral atrophy and abnormal Myelination |
Bell et al. (2019); Yuksel et al. (2019)
|
|
BCL11a
|
BAF100a |
Autism, Schizophrenia, p15–16.1 Microdeletion syndrome, Intellectual Disability |
Microdeletion, missense, frameshift |
Defects in social and communication skills, restricted and repetitive behaviour, delusions, thought disorder, cognitive dysfunction, developmental delay, hearing and visual impairment and corpus callosum agenesis |
Basak et al. (2015); Bagheri et al. (2016); Chen et al. (2020); De Rubeis et al. (2014), Korenke et al. (2020)
|
|
SMARCC2
|
BAF170 |
Coffin Siris Syndrome, Nicolaides-Baraitser syndrome like, Autism |
Splice site mutation |
CNS structural abnormalities, ID, microcephaly, behavioural problems and seizures, defects in social and communication skills, restricted and repetitive behaviour |
Machol et al. (2019)
|
ISWI |
SMARCA1
|
SNF2L |
Coffin-Siris like syndrome; Schizophrenia |
Nonsense, missense |
ID, microcephaly with cortical atrophy, spasticity, dysmorphic features |
Homann et al. (2016); Karaca et al. (2015)
|
|
BAZ1A
|
ACF-1 |
Intellectual Disability |
Missense |
ID, corpus callosum agenesis |
Zaghlool et al. (2016)
|
|
BAZ1B
|
WSTF |
Williams Syndrome |
Microdeletion |
Anxiety, ADHD |
Lalli et al. (2016)
|
|
BPTF
|
BPTF |
Unnamed syndrome; Silver-Russell syndrome |
Nonsense, missense, frameshift, CNV deletion, splice-variant |
ID, DD, microcephaly, dysmorphic facial features; pre- and postnatal growth retardation |
Stankiewicz et al. (2017); Wakeling et al. (2017)
|
|
RAD21
|
RAD21 |
Cornelia de Lange (CdL) |
LOF |
Microcephaly, holoprosencephaly |
Goel 2020; Kruszka et al. (2019)
|
|
SMC1
|
SMC1 |
Cornelia de Lange syndrome and holoprosencephaly |
Nonsense, missense |
Holoprosencephaly |
Kruszka et al. (2019)
|
|
SMC3
|
SMC3 |
ID and holoprosencephaly |
Missense, nonsense, in-frame deletion/duplication |
Holoprosencephaly |
Kruszka et al. (2019)
|
|
STAG2
|
SA2 |
STAG2-related X-linked Intellectual Deficiency and holoprosencephaly |
LOF |
Moderate ID, language and hearing defects, developmental delay, microcephaly, characteristic facial features, holoprosencephaly |
Kruszka et al. (2019); Soardi et al. (2017)
|
INO80/SWR1 |
INO80
|
|
Intellectual Disability and Global developmental delay |
– |
ID, DD, microcephaly |
Alazami et al. (2015)
|
|
SRCAP
|
|
Floating Harbor Syndrome |
Nonsense |
ID, ADHD, speech delay, cranio-facial features |
Greenberg et al. (2019); Homma et al. (2019); Zhang et al. (2019)
|
|
TIP60/KAT5
|
|
Unnamed syndrome |
Missense |
ID, DD, corpus callosum agenesis/dysgenesis, characteristic facial features |
Humbert et al. (2020)
|
Other CHDs |
CHD1
|
CHD1 |
Pilarowski-Bj ornsson Syndrome, 5q15-q21.2 deletion, ASD |
Missense, deletion |
Speech apraxia, DD, autism, craniofacial dysmorphism, motor delay |
Neale et al. (2013); Pilarowski et al. (2018); Zepeda-Mendoza et al., 2019
|
|
CHD2
|
CHD2 |
Developmental Epileptic Encephalopathy, Epilepsy with myoclonicatonic epilepsy, ASD |
Nonsense, missense, deletion |
Photosensitivity, myoclonic seizures, ID |
Angione et al. (2019); Carvill et al. (2013); Neale et al. (2013); Trivisano et al. (2015)
|
|
CHD7
|
CHD7 |
CHARGE Syndrome, ASD |
Missense, nonsense, frameshift, microdeletions, translocation, intronic SNV |
Developmental delay, hearing impairment, defects in social and communication skills, restricted and repetitive behaviour |
Johnson et al. (2006); O’Roak et al., 2012; Vissers et al. (2004); Zhang et al. (2020)
|
|
CHD8
|
CHD8 |
14q11.2 microdeletion, Zahir Friedman syndrome, Schizophrenia |
de novo deletion, Microdeletion, CNVs, missense, frameshift, nonsense, single amino acid deletions, duplications, point mutations |
Developmental delay, cognitive impairment, dysmorphic features, ASD/DD/ID, macrocephaly, speech defects, defects in social and communication skills, restricted and repetitive behaviour, hallucinations, persecutory delutions and catatonic behaviors |
Bernier et al. (2014); Kimura et al., (2016); McCarthy et al., (2014); Merner et al., 2016; Stessman et al. (2017); Talkowski et al., 2012; Yasin et al. (2019); Yasin et al., 2020; Zahir et al., 2007
|