Angelman Rett like syndromes
Gene: HECW2EnsemblGeneIds (GRCh38): ENSG00000138411
EnsemblGeneIds (GRCh37): ENSG00000138411
OMIM: 617245, Gene2Phenotype
HECW2 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Typically denovo missense variants in the HECT domain.
PMID: 29807643 - R1191Q single case with severe D/ID, EE and regression
PMID: 29395664 - single case with regression, loss of swallowing, increased abnormal movements/hand stereotypies, Rett like, cortical visual impairment and EE
PMID: 27334371 - propose GOF or dominant negative; 1 case plus references 5 previous cases
PMID: 27389779 - four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. p. Arg1330Trp, p.Glu1445Gly reported >1 case.
Regression reported in the context of refractory EECreated: 19 Oct 2020, 4:06 a.m. | Last Modified: 19 Oct 2020, 4:06 a.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268
Publications
Mode of pathogenicity
Other
Natasha Brown (Victorian Clinical Genetics Services)
Sources: LiteratureCreated: 19 Oct 2020, 3:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; epilepsy; regression; microcephaly
Publications
- PMID: 29395664
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268
- intellectual disability
- epilepsy
- regression
- microcephaly
- OMIM
- 617245
- Clinvar variants
- Variants in HECW2
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HECW2 were changed from intellectual disability; epilepsy; regression; microcephaly to Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; intellectual disability; epilepsy; regression; microcephaly
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: HECW2 were set to PMID: 29395664
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: HECW2 was changed from None to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hecw2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Natasha Brown (Victorian Clinical Genetics Services)Gene: hecw2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Natasha Brown (Victorian Clinical Genetics Services)gene: HECW2 was added gene: HECW2 was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HECW2 were set to PMID: 29395664 Phenotypes for gene: HECW2 were set to intellectual disability; epilepsy; regression; microcephaly Penetrance for gene: HECW2 were set to Complete Review for gene: HECW2 was set to GREEN