IUGR and IGF abnormalities
Gene: GPR161
GPR161 (G protein-coupled receptor 161)
EnsemblGeneIds (GRCh38): ENSG00000143147
EnsemblGeneIds (GRCh37): ENSG00000143147
OMIM: 612250, Gene2Phenotype
GPR161 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000143147
EnsemblGeneIds (GRCh37): ENSG00000143147
OMIM: 612250, Gene2Phenotype
GPR161 is in 5 panels
2 reviews
Peter Clayton (University of Manchester)
Mehul Dattani (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
- OMIM
- 612250
- Clinvar variants
- Variants in GPR161
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Mehul Dattani (UCL Institute of Child Health)GPR161 was added to IUGR and IGF abnormalitiespanel. Sources: Expert Review,Literature
25 Oct 2015, Gel status: 0
Created
Mehul Dattani (UCL Institute of Child Health)GPR161 was created by mdattani