Macrocephaly_Megalencephaly
Gene: CHD1EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 6 panels
1 review
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)
Two of the 5 patients in the Pilarowski paper have macrocephaly associated with their neurodevelopmental disorder.
All the variants in the Pilarowski paper are missenses, and the assumed mechanism is a dominant negative effect, although there are now a few pathogenic/likely pathogenic LoFs in ClinVar.
Sources: LiteratureCreated: 8 Oct 2024, 7:26 a.m. | Last Modified: 8 Oct 2024, 7:26 a.m.
Panel Version: 0.148
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; macrocephaly
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- intellectual disability
- macrocephaly
- OMIM
- 602118
- Clinvar variants
- Variants in CHD1
- Penetrance
- Incomplete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: chd1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)gene: CHD1 was added gene: CHD1 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to intellectual disability; macrocephaly Penetrance for gene: CHD1 were set to Incomplete Mode of pathogenicity for gene: CHD1 was set to Other Review for gene: CHD1 was set to AMBER gene: CHD1 was marked as current diagnostic