Malformations of cortical development

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 19 Dec 2016, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chudley-McCullough syndrome 604213

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Chudley-McCullough syndrome 604213
OMIM
609245
Clinvar variants
Variants in GPSM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

19 Dec 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

GPSM2 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

GPSM2 was created by agardham