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BabyScreen+ newborn screening

Gene: CHD2

Red List (low evidence)

CHD2 (chromodomain helicase DNA binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000173575
EnsemblGeneIds (GRCh37): ENSG00000173575
OMIM: 602119, Gene2Phenotype
CHD2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Established gene-disease association.

Onset in infancy/childhood.

No specific treatment available.
Created: 25 Oct 2022, 6:07 a.m. | Last Modified: 25 Oct 2022, 6:07 a.m.
Panel Version: 0.634

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, childhood-onset (MIM # 615369)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Epileptic encephalopathy, childhood-onset (MIM # 615369)
OMIM
602119
Clinvar variants
Variants in CHD2
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd2 has been classified as Red List (Low Evidence).

25 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHD2 were changed from Developmental delay, intellectual disability, epilepsy to Epileptic encephalopathy, childhood-onset (MIM # 615369)

25 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd2 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD2 was added gene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy