Primary lymphoedema
Gene: CHD7
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
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
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
Tag for-review was removed from gene: CHD7.
Gene: chd7 has been classified as Red List (Low Evidence).
Tag for-review tag was added to gene: CHD7.
Publications for gene: CHD7 were set to
Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800
Gene: chd7 has been classified as Green List (High Evidence).
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