Pituitary hormone deficiency
Gene: GPR161No 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:25322266Created: 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
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.
Phenotypes for gene: GPR161 were changed from No OMIM number; pituitary stalk interruption syndrome to pituitary stalk interruption syndrome, MONDO:0019828
Mode of inheritance for gene: GPR161 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ivone Leong: There is only one case with tw
Phenotypes for gene: GPR161 were changed from No OMIM number to No OMIM number; pituitary stalk interruption syndrome
Publications for gene: GPR161 were set to
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