Genomics England

CHD7

chromodomain helicase DNA binding protein 7

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CHARGE SYNDROME
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CHARGE SYNDROME 214800, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110, KALLMANN SYNDROME TYPE 5 612370
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CHARGE syndrome, 214800
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes KALLMANN SYNDROME TYPE 5, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, CHARGE SYNDROME
Green in Hypogonadotropic hypogonadism (GMS) R-numbers: R148 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Hypogonadotropic hypogonadism type 5 (OMIM 612370)
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370, KALLMANN SYNDROME TYPE 5 (KAL5)
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.42	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes hearing loss, #214800:CHARGE syndrome, #612370:Hypogonadotropic hypogonadism 5 with or without anosmia
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CHARGE syndrome (214800), Hypogonadotropic hypogonadism 5 with or without anosmia (612370)
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Charge syndrome, CHARGE syndrome, 214800, Immunodeficiency, COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES, Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs, Combined immunodeficiencies with associated or syndromic features
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CHARGE syndrome, OMIM:214800, CHARGE syndrome, MONDO:0008965
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CHARGE syndrome, 214800
Green in Unexplained young onset end-stage renal disease - additional genes Component of the following Super Panels: - Unexplained young onset end-stage renal disease Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CHARGE syndrome 214800