Combined Immunodeficiency

Gene: CHD7

Green List (high evidence)

Over 30 individuals with CHD7 variants displaying typical CHARGE characteristics (coloboma, heart defect, atresia choanae....) present with SCID-like features lymphopaenia, sever T-cell deficiency and hypogammaglobulinaemia; Multiple mouse models

Heterozygous missense, nonsense, frameshift, splice site and full/partial gene deletions variants result in protein LOF.

The disease spectrum associated with CHD7 variants is vast, including Kallmann syndrome (characterized by hypogonadotropic hypogonadism and anosmia), which are both features of CHARGE syndrome. Highly variable phenotype (even within same families).

Created: 22 Jul 2021, 4:01 a.m. | Last Modified: 22 Jul 2021, 4:01 a.m.

Panel Version: 0.216

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome MIM# 214800; Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370; Kallmann syndrome; hypogonadotropic hypogonadism with or without anosmia (HH); Coloboma of the eye; heart anomaly; choanal atresia; intellectual disability; genital and ear anomalies, Deafness; Delayed pubertal development; CNS malformation; Cleft lip; SCID-like features; lymphopaenia; sever T-cell deficiency; hypogammaglobulinaemia

Publications

• 15300250
• 26551301
• 26538304
• 20186815
• 17334657