geno logo
     HELP     Sign In

Quick Links

TOOLS
Search

Relevance to Autism

Two de novo missense variants in the HECW2 gene were identified in simplex ASD probands, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=0.05) (Iossifov et al., 2014; Krumm et al., 2015). Mutations in the HECW2 gene are associated with neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM 617268) (Halvardson et al., 2016; Berko et al., 2017); some patients with this disorder exhibit behavioral abnormalities including hand-flapping, rocking, self-stimulatory or self-injurious behavior, and autistic features.

Molecular Function

The protein encoded by this gene is a E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Excess of rare, inherited truncating mutations in autism.
ASD
Support
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability
DD, ID
ADHD
Support
DD, epilepsy/seizures
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD
Support
Integrating de novo and inherited variants in 42
ASD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, ID
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
ASD
DD
Support
De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.
DD, ID, epilepsy/seizures
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
DD, ID
Support
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.
Neurodevelopmental disorder with hypotonia, seizur
Support
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns
DD, ID
Autistic features, stereotypy
Support
DD, epilepsy/seizures
Support
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Epilepsy/seizures
DD/ID
Support
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population
DD, ID
Stereotypy
Support
ADHD, DD, epilepsy/seizures
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
DD, ID
ASD or autistic features, stereotypy, epilepsy/sei
Recent Recommendation
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
DD
Epilepsy/seizures, ASD
Recent Recommendation
Mutations in HECW2 are associated with intellectual disability and epilepsy.
ID, epilepsy/seizures

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN737R001 
 missense_variant 
 c.4325A>G 
 p.Asp1442Gly 
 De novo 
  
 Simplex 
 GEN737R002 
 missense_variant 
 c.3571C>T 
 p.Arg1191Trp 
 De novo 
  
 Simplex 
 GEN737R003 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 De novo 
  
 Simplex 
 GEN737R004 
 missense_variant 
 c.2504G>A 
 p.Arg835Gln 
 De novo 
  
 Simplex 
 GEN737R005 
 missense_variant 
 c.3572G>A 
 p.Arg1191Gln 
 De novo 
  
 Simplex 
 GEN737R006 
 missense_variant 
 c.3577T>G 
 p.Phe1193Val 
 De novo 
  
 Multiplex (monozygotic twins) 
 GEN737R007 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 De novo 
  
 Simplex 
 GEN737R008 
 missense_variant 
 c.2920C>T 
 p.Arg974Trp 
 De novo 
  
 Simplex 
 GEN737R009 
 missense_variant 
 c.4334A>G 
 p.Glu1445Gly 
 De novo 
  
 Simplex 
 GEN737R010 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 De novo 
  
 Simplex 
 GEN737R011 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 De novo 
  
 Simplex 
 GEN737R012 
 missense_variant 
 c.3572G>A 
 p.Arg1191Gln 
 De novo 
  
 Simplex 
 GEN737R013 
 missense_variant 
 c.3829T>C 
 p.Tyr1277His 
 De novo 
  
 Simplex 
 GEN737R014 
 missense_variant 
 c.4690G>A 
 p.Glu1564Lys 
 De novo 
  
 Simplex 
 GEN737R015 
 missense_variant 
 c.1105A>G 
 p.Asn369Asp 
 De novo 
  
  
 GEN737R016 
 missense_variant 
 c.3980T>C 
 p.Phe1327Ser 
 Unknown 
  
  
 GEN737R017 
 missense_variant 
 c.4511C>A 
 p.Ser1504Tyr 
 De novo 
  
 Simplex 
 GEN737R018 
 missense_variant 
 c.3980T>C 
 p.Phe1327Ser 
 De novo 
  
 Simplex 
 GEN737R019 
 missense_variant 
 c.3175C>T 
 p.Pro1059Ser 
 Unknown 
  
 Unknown 
 GEN737R020 
 missense_variant 
 c.3572G>A 
 p.Arg1191Gln 
 De novo 
  
 Simplex 
 GEN737R021 
 missense_variant 
 c.4323T>G 
 p.Phe1441Leu 
 De novo 
  
 Simplex 
 GEN737R022 
 missense_variant 
 c.2818G>A 
 p.Ala940Thr 
 Unknown 
  
  
 GEN737R023 
 missense_variant 
 c.4355G>T 
 p.Gly1452Val 
 De novo 
  
 Simplex 
 GEN737R024 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 De novo 
  
 Simplex 
 GEN737R025 
 missense_variant 
 c.412A>G 
 p.Ile138Val 
 De novo 
  
 Simplex 
 GEN737R026 
 missense_variant 
 c.3597C>A 
 p.Asn1199Lys 
 De novo 
  
 Simplex 
 GEN737R027 
 missense_variant 
 c.3572G>A 
 p.Arg1191Gln 
 De novo 
  
 Simplex 
 GEN737R028 
 missense_variant 
 c.2504G>A 
 p.Arg835Gln 
 Unknown 
  
  
 GEN737R029 
 missense_variant 
 c.3572G>A 
 p.Arg1191Gln 
 De novo 
  
 Simplex 
 GEN737R030 
 missense_variant 
 c.3597C>A 
 p.Asn1199Lys 
 De novo 
  
 Simplex 
 GEN737R031 
 missense_variant 
 c.2587T>C 
 p.Tyr863His 
 De novo 
  
 Simplex 
 GEN737R032 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 De novo 
  
 Simplex 
 GEN737R033 
 missense_variant 
 c.4514G>C 
 p.Ser1505Thr 
 De novo 
  
 Simplex 
 GEN737R034 
 missense_variant 
 c.3583G>C 
 p.Ala1195Pro 
 De novo 
  
 Simplex 
 GEN737R035 
 missense_variant 
 c.4507A>G 
 p.Thr1503Ala 
 De novo 
  
 Simplex 
 GEN737R036 
 missense_variant 
 c.4333G>C 
 p.Glu1445Gln 
 De novo 
  
 Simplex 
 GEN737R037 
 missense_variant 
 c.3572G>A 
 p.Arg1191Gln 
 De novo 
  
 Simplex 
 GEN737R038 
 missense_variant 
 c.3571C>T 
 p.Arg1191Trp 
 Familial 
 Maternal 
 Multiplex 
 GEN737R039a 
 missense_variant 
 c.3542C>G 
 p.Ala1181Gly 
 De novo 
  
 Simplex 
 GEN737R039b 
 missense_variant 
 c.3587A>G 
 p.Lys1196Arg 
 De novo 
  
 Simplex 
 GEN737R040 
 missense_variant 
 c.4436G>A 
 p.Arg1479Gln 
 Unknown 
  
  
 GEN737R041 
 splice_site_variant 
 c.3226-1G>T 
  
 Unknown 
  
  
 GEN737R042 
 missense_variant 
 c.1160G>C 
 p.Arg387Thr 
 Unknown 
  
  
 GEN737R043 
 synonymous_variant 
 c.4128C>T 
 p.Asn1376%3D 
 De novo 
  
  
 GEN737R044 
 missense_variant 
 c.2591A>C 
 p.Gln864Pro 
 De novo 
  
  
 GEN737R045 
 missense_variant 
 c.2495C>T 
 p.Thr832Ile 
 De novo 
  
  
 GEN737R046 
 synonymous_variant 
 c.1062C>T 
 p.Asp354%3D 
 De novo 
  
  
 GEN737R047 
 missense_variant 
 c.124A>T 
 p.Thr42Ser 
 De novo 
  
  
 GEN737R048 
 missense_variant 
 c.4484G>A 
 p.Arg1495Lys 
 Unknown 
  
 Simplex 
 GEN737R049 
 missense_variant 
 c.4G>A 
 p.Ala2Thr 
 Unknown 
  
  
  et al.  
 GEN737R050 
 missense_variant 
 c.3988C>T 
 p.Arg1330Trp 
 Unknown 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Deletion
 2
 
2
Deletion
 1
 
2
Deletion
 1
 
2
Duplication
 1
 
2
Duplication
 2
 
2
Duplication
 1
 
2
Deletion-Duplication
 12
 
2
Duplication
 5
 
2
Duplication
 1
 
2
Deletion-Duplication
 24
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.