Cerebral Palsy
Gene: HECW2EnsemblGeneIds (GRCh38): ENSG00000138411
EnsemblGeneIds (GRCh37): ENSG00000138411
OMIM: 617245, Gene2Phenotype
HECW2 is in 6 panels
2 reviews
Clare van Eyk (University of Adelaide)
1 additional individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.Created: 27 May 2024, 6:05 a.m. | Last Modified: 27 May 2024, 6:05 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM#617268
Publications
- PMID: 38693247
Danielle Ariti (University of Melbourne)
3 individuals in CP cohort with mono-allelic (2x de novo & 1 unknown inheritance) HECW2 variants. All individuals were diagnosed with idiopathic dystonic CP.
HECW2 variants cause a neurodevelopmental disorder NDHSAL that presents with severe developmental delay, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly.
Sources: Expert listCreated: 23 Sep 2021, 3:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral Palsy; Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268
- OMIM
- 617245
- Clinvar variants
- Variants in HECW2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hecw2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: HECW2 was added gene: HECW2 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HECW2 were set to 33528536; 33098801 Phenotypes for gene: HECW2 were set to Cerebral Palsy; Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268 Review for gene: HECW2 was set to GREEN