Macrocephaly_Megalencephaly
Gene: CHD1
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
Gene: chd1 has been classified as Amber List (Moderate Evidence).
Gene: chd1 has been classified as Amber List (Moderate Evidence).
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