Monogenic hearing loss
Gene: GPSM2New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#604213:Chudley-McCullough syndrome[Hydrocephalus (variable); Hearing loss, sensorineural, severe-to-profound; Hydrocephalus (variable)Ventriculomegaly (variable)Normal psychomotor development in mostIntellectual disability, mild (uncommon)Seizures (uncommon)Brain MRI shows hypoplasia of the corpus callosumPartial agenesis of the corpus callosumDysplastic corpus callosumCerebellar hypoplasia due to enlarged foramen magnumFocal cerebellar dysplasiaObstruction of the foramen of Monro (variable)Subcortical nodular grey matter heterotopiaPolymicrogyriaArachnoid cysts]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:29 p.m.
also causes arachnoid cysts and MRI changes; clinical phenotpye maybe mild neurological symptomsCreated: 30 Sep 2015, 2:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
chudley Mccullough syndrome
Phenotypes for GPSM2 were set to Nonsyndromic Hearing Loss, Recessive; Chudley-McCullough syndrome, 604213; also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms
Publications for GPSM2 were set to PMID:11832491; 15623799; 16357871; 20602914; 21331036; 21348867; 22578326; 8973305
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal
GPSM2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal
GPSM2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal
GPSM2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal
GPSM2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
GPSM2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert