CHARGE syndrome
Gene: CHD7
Comment on list classification: Overall rating definedCreated: 23 Aug 2019, 1:32 p.m. | Last Modified: 23 Aug 2019, 1:32 p.m.
Panel Version: 0.6
Test commentsCreated: 23 Aug 2019, 1:29 p.m. | Last Modified: 23 Aug 2019, 1:29 p.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Validity - Definitive.Created: 23 Aug 2019, 1:10 p.m. | Last Modified: 23 Aug 2019, 1:10 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
Unknown
Mode of inheritance
Unknown
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE SYNDROME
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800
Definitive. See the full report here: https://search.clinicalgenome.org/kb/gene-validity/26ae5799-567b-431b-b981-3bc2f8635802--2018-08-22T20:16:33Created: 23 Aug 2019, 1:10 p.m. | Last Modified: 23 Aug 2019, 1:10 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome; MONDO:0008965
This gene is Green on the following panels for the CHARGE phenotype: Choanal atresia Version 1.13, IUGR and IGF abnormalities Version 1.29, VACTERL-like phenotypes Version 1.24, Deafness and congenital structural abnormalities Version 1.17, Pituitary hormone deficiency Version 2.0, Hypogonadotropic hypogonadism Version 1.26, Primary immunodeficiency Version 1.42, Unexplained kidney failure in young people Version 1.73, Ocular coloboma Version 1.34, Disorders of sex development Version 2.0, CAKUT Version 1.39, Renal and urinary tract disorders Version 1.18, DDG2P Version 1.80, Hearing loss Version 1.127, Clefting Version 1.38, Intellectual disability Version 2.999.Created: 23 Aug 2019, 1:10 p.m. | Last Modified: 23 Aug 2019, 1:10 p.m.
Panel Version: 0.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800
Publications
Tag refuted tag was added to gene: CHD7.
Publications for gene: CHD7 were set to
Phenotypes for gene: CHD7 were changed from to CHARGE syndrome; MONDO:0008965; CHARGE syndrome 214800
Gene: chd7 has been classified as Green List (High Evidence).
Gene: chd7 has been classified as Green List (High Evidence).
gene: CHD7 was added gene: CHD7 was added to CHARGE syndrome. Sources: Other Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted