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Hearing loss

Gene: GPSM2

Green List (high evidence)

GPSM2 (G protein signaling modulator 2)
EnsemblGeneIds (GRCh38): ENSG00000121957
EnsemblGeneIds (GRCh37): ENSG00000121957
OMIM: 609245, Gene2Phenotype
GPSM2 is in 6 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:47 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Jun Shen (Harvard Medical School)

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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:29 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

also causes arachnoid cysts and MRI changes; clinical phenotpye maybe mild neurological symptoms
Created: 30 Sep 2015, 2:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
chudley Mccullough syndrome

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nonsyndromic Hearing Loss, Recessive
  • Chudley-McCullough syndrome, 604213
  • also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms
OMIM
609245
Clinvar variants
Variants in GPSM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GPSM2 were set to PMID:11832491; 15623799; 16357871; 20602914; 21331036; 21348867; 22578326; 8973305

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GPSM2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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