Primary lymphoedema
Gene: CHD7EnsemblGeneIds (GRCh38): ENSG00000171316
EnsemblGeneIds (GRCh37): ENSG00000171316
OMIM: 608892, Gene2Phenotype
CHD7 is in 23 panels
3 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:55 a.m. | Last Modified: 3 Mar 2022, 11:55 a.m.
Panel Version: 2.24
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)
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)
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 listCreated: 22 Aug 2019, 12:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE syndrome 214800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- CHARGE syndrome 214800
- OMIM
- 608892
- Clinvar variants
- Variants in CHD7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary lymphoedema
- CAKUT
- VACTERL-like phenotypes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Ocular coloboma
- Intellectual disability
- Differences in sex development
- Monogenic short stature
- COVID-19 research
- Choanal atresia
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: CHD7.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: chd7 has been classified as Red List (Low Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: CHD7.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CHD7 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: chd7 has been classified as Green List (High Evidence).
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