Primary lymphoedema

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 25 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Variants are also associated with Hypogonadotropic hypogonadism 5 with or without anosmia 612370, but this is not relevant to this panel.
Created: 22 Aug 2019, 12:38 p.m. | Last Modified: 22 Aug 2019, 12:38 p.m.
Panel Version: 1.101
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for CHARGE syndrome 214800. At least 14 variants reported associated with CHARGE syndrome 214800.
Sources: Expert list
Created: 22 Aug 2019, 12:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CHARGE syndrome 214800

History Filter Activity

22 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CHD7 were set to

22 Aug 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800

22 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Aug 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: CHD7 was added gene: CHD7 was added to Primary lymphoedema. Sources: Expert list 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 214800 Review for gene: CHD7 was set to GREEN