Genomics England
GMS Panels
Panels
Genes and Entities

GPSM2

G protein signaling modulator 2
OMIM: 609245
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHUDLEY-MCCULLOUGH SYNDROME
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHUDLEY-MCCULLOUGH SYNDROME
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chudley-McCullough syndrome, OMIM:604213
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chudley-McCullough syndrome 604213
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.57
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