GPSM2

G protein signaling modulator 2
OMIM: 609245
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHUDLEY-MCCULLOUGH SYNDROME
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHUDLEY-MCCULLOUGH SYNDROME
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic Hearing Loss, Recessive, Chudley-McCullough syndrome, 604213, also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chudley-McCullough syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DEAFNESS AUTOSOMAL RECESSIVE TYPE 82
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chudley-McCullough syndrome 604213