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Pituitary hormone deficiency

Gene: GPR161

Red List (low evidence)
GPR161 (G protein-coupled receptor 161)
EnsemblGeneIds (GRCh38): ENSG00000143147
EnsemblGeneIds (GRCh37): ENSG00000143147
OMIM: 612250, Gene2Phenotype
GPR161 is in 5 panels

2 reviews

Eleanor Williams (Genomics England Curator)

No phenotype association in OMIM.
As stated previously Karaca et al. (2015) (PMID:25322266) report that a homozygous missense variant IN GPR161 was found in 2 members of a family by WES. Both affected individuals had a clinical diagnosis of Pituitary stalk interruption syndrome (PSIS).
A search of PubMed did not find any further reported cases therefore this gene should remain red at this time.
Created: 17 Sep 2022, 3:52 p.m. | Last Modified: 17 Sep 2022, 3:52 p.m.
Panel Version: 2.43
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR.J Clin Endocrinol Metab. 2015 Jan;100(1):E140-7. doi: 10.1210/jc.2014-1984.PMID:25322266
Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PITUITARY STALK INTERRUPTION SYNDROME

Publications

Created: 14 Sep 2022, 4:44 p.m.
Last Modified: 14 Sep 2022, 4:44 p.m.
Panel version: 2.43

Ivone Leong (Genomics England Curator)

There is only one case with two members of the same family reported to have pituitary stalk interruption syndrome and a missense variant in GPR161.
Created: 12 Dec 2018, 1:52 p.m.
Created: 12 Dec 2018, 1:52 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • pituitary stalk interruption syndrome, MONDO:0019828
OMIM
612250
Clinvar variants
Variants in GPR161
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2022, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: GPR161 were changed from No OMIM number; pituitary stalk interruption syndrome to pituitary stalk interruption syndrome, MONDO:0019828

17 Sep 2022, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: GPR161 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: There is only one case with tw

12 Dec 2018, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GPR161 were changed from No OMIM number to No OMIM number; pituitary stalk interruption syndrome

12 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GPR161 were set to

7 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GPR161 was added gene: GPR161 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: GPR161 was set to Unknown Phenotypes for gene: GPR161 were set to No OMIM number