Cerebral Palsy
Gene: CHD8EnsemblGeneIds (GRCh38): ENSG00000100888
EnsemblGeneIds (GRCh37): ENSG00000100888
OMIM: 610528, Gene2Phenotype
CHD8 is in 8 panels
1 review
Luisa Weiss (University of Adelaide)
3 individual cases in one large cohort study, two de novo missense mutations and one frameshift mutation with unknown inheritance.
Sources: LiteratureCreated: 23 May 2023, 12:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with autism and macrocephaly #615032
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder with autism and macrocephaly #615032
- OMIM
- 610528
- Clinvar variants
- Variants in CHD8
- 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: chd8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: CHD8 was added gene: CHD8 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD8 were set to 33528536 Phenotypes for gene: CHD8 were set to Intellectual developmental disorder with autism and macrocephaly #615032 Review for gene: CHD8 was set to GREEN