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Fetal anomalies

Gene: CHD7

Green List (high evidence)
CHD7 (chromodomain helicase DNA binding protein 7)
EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple congenital anomalies are a feature.
Created: 20 Jun 2021, 8:46 a.m. | Last Modified: 15 Nov 2021, 12:57 a.m.
Panel Version: 0.443

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome, MIM# 214800

Publications

Created: 20 Jun 2021, 8:46 a.m.
Last Modified: 15 Nov 2021, 12:57 a.m.
Panel version: 0.443

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd7 has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHD7 were changed from CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5 to CHARGE syndrome, MIM# 214800

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHD7 were set to

15 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHD7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD7 was added gene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD7 were set to CHARGE SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME TYPE 5