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  3. CHD5
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Early onset or syndromic epilepsy

Gene: CHD5

Green List (high evidence)
CHD5 (chromodomain helicase DNA binding protein 5)
EnsemblGeneIds (GRCh38): ENSG00000116254
EnsemblGeneIds (GRCh37): ENSG00000116254
OMIM: 610771, Gene2Phenotype
CHD5 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
Created: 1 Feb 2023, 9:39 a.m.
Last Modified: 1 Feb 2023, 9:39 a.m.
Panel version: 3.29

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in Gene2Phenotype (possible) but not in OMIM.

PMID: 33944996. Age ranged from 3 years - 22 years. 9/14 individuals had ID (only 6 of 9 patients were assessed for severity with 2 moderate ID and 4 severe cases). 10/16 individuals had epilepsy. 7/14 had hypotonia and 3/7 had craniosynostosis. 16 different variants were identified (11 missense, 1 frameshift, 2 nonsense and 2 splice site variants).

There are >3 unrelated cases, therefore there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 19 Jul 2021, 1:35 p.m. | Last Modified: 19 Jul 2021, 1:35 p.m.
Panel Version: 3.1197
Created: 19 Jul 2021, 1:35 p.m.
Last Modified: 19 Jul 2021, 1:35 p.m.
Copied from panel: Intellectual disability v3.1197

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

Created: 10 May 2021, 10:42 a.m.

Copied from panel: Intellectual disability v3.1197

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM:610771
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
OMIM
610771
Clinvar variants
Variants in CHD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: CHD5.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CHD5. Source NHS GMS was added to CHD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Jun 2022, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHD5 were changed from Intellectual disability, MONDO:0001071; Epilepsy, MONDO:0005027 to OMIM:610771; Intellectual disability, MONDO:0001071; Epilepsy, MONDO:0005027

19 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: CHD5.

19 Jul 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: CHD5 was added gene: CHD5 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,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, MONDO:0001071; Epilepsy, MONDO:0005027