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Intellectual disability

Gene: CHD1

No list

CHD1 (chromodomain helicase DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated individuals with heterozygous variants reported. Possible dominant negative mechanism: reported variants are missense, and an individual with a deletion did not have a neurological phenotype.
Sources: Expert list
Created: 1 Feb 2020, 3:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pilarowski-Bjornsson syndrome, MIM#617682

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
Phenotypes
  • Pilarowski-Bjornsson syndrome, MIM#617682
OMIM
602118
Clinvar variants
Variants in CHD1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Australian Genomics)

gene: CHD1 was added gene: CHD1 was added to Intellectual disability. Sources: Expert list 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 Pilarowski-Bjornsson syndrome, MIM#617682 Mode of pathogenicity for gene: CHD1 was set to Other Review for gene: CHD1 was set to GREEN gene: CHD1 was marked as current diagnostic