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Primary lymphoedema v2.4 CHD7 Ivone Leong reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary lymphoedema v2.4 CHD7 Ivone Leong Tag for-review tag was added to gene: CHD7.
Primary lymphoedema v2.4 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary lymphoedema v1.102 CHD7 Sarah Leigh Publications for gene: CHD7 were set to
Primary lymphoedema v1.101 CHD7 Sarah Leigh Added comment: Comment on phenotypes: Variants are also associated with Hypogonadotropic hypogonadism 5 with or without anosmia 612370, but this is not relevant to this panel.
Primary lymphoedema v1.101 CHD7 Sarah Leigh Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800
Primary lymphoedema v1.100 CHD7 Sarah Leigh Classified gene: CHD7 as Green List (high evidence)
Primary lymphoedema v1.100 CHD7 Sarah Leigh Gene: chd7 has been classified as Green List (High Evidence).
Primary lymphoedema v1.99 CHD7 Sarah Leigh 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
Added comment: 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