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Intellectual disability

Gene: CHD5

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CHD5 (chromodomain helicase DNA binding protein 5)
EnsemblGeneIds (GRCh38): ENSG00000116254
EnsemblGeneIds (GRCh37): ENSG00000116254
OMIM: 610771, Gene2Phenotype
CHD5 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

16 unrelated individuals reported with language deficits (81%), behavioral symptoms (69%), intellectual disability (64%), epilepsy (62%), and motor delay (56%).
Sources: Literature
Created: 10 May 2021, 10:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Epilepsy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Intellectual disability
  • Epilepsy
OMIM
610771
Clinvar variants
Variants in CHD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CHD5 was added gene: CHD5 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD5 were set to 33944996 Phenotypes for gene: CHD5 were set to Intellectual disability; Epilepsy Review for gene: CHD5 was set to GREEN gene: CHD5 was marked as current diagnostic