CHD7

chromodomain helicase DNA binding protein 7
OMIM: 608892
PanelMode of inheritanceDetails
12 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE SYNDROME
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE SYNDROME 214800, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110, KALLMANN SYNDROME TYPE 5 612370
R-numbers: R146
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE syndrome, 214800
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
KALLMANN SYNDROME TYPE 5, IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, CHARGE SYNDROME
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hearing loss, #214800:CHARGE syndrome, #612370:Hypogonadotropic hypogonadism 5 with or without anosmia
R-numbers: R148
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypogonadotropic hypogonadism type 5 (OMIM 612370)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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)
R-numbers: R159
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE syndrome (214800), Hypogonadotropic hypogonadism 5 with or without anosmia (612370)
R-numbers: R15
Signed-off version 2.1
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
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHARGE syndrome 214800
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome, 214800
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CHARGE syndrome 214800