Malformations of cortical development
Gene: GPSM2
GPSM2 (G protein signaling modulator 2)
EnsemblGeneIds (GRCh38): ENSG00000121957
EnsemblGeneIds (GRCh37): ENSG00000121957
OMIM: 609245, Gene2Phenotype
GPSM2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000121957
EnsemblGeneIds (GRCh37): ENSG00000121957
OMIM: 609245, Gene2Phenotype
GPSM2 is in 6 panels
1 review
Alice Gardham (Genomics England)
Recognised on G2PCreated: 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