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 24 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

After discussion with the Genomics England Clinical Team, it was agreed that CHD7 should be demoted to Red as there is not a clear link between CHARGE syndrome and lymphoedema. However, CHD7 will be demoted to Red once discussed with the GMS specialist group.
Created: 7 Jul 2020, 8:23 a.m. | Last Modified: 7 Jul 2020, 8:23 a.m.
Panel Version: 2.4

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Cannot find specific association between CHARGE syndrome and lymphoedema or hydrops.
Created: 27 Mar 2020, 10:19 p.m. | Last Modified: 27 Mar 2020, 10:19 p.m.
Panel Version: 2.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome, MIM# 214800

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

3 Jul 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: CHD7.

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