Macrocephaly_Megalencephaly

Gene: CHD1

Amber List (moderate evidence)

CHD1 (chromodomain helicase DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 6 panels

1 review

Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)

I don't know

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: Literature
Created: 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

25 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Oct 2024, Gel status: 0

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