Pituitary hormone deficiency
Gene: DCHS2
Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review. However, this may change if further DCHS2 variants are found in cases of pituitary stalk interruption syndrome.Created: 15 Sep 2022, 2:38 p.m. | Last Modified: 15 Sep 2022, 2:38 p.m.
Panel Version: 2.24
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports three DCHS2 variants in three unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants is digenic with a FAT2 variant and so its contribution to disease causation is uncertain. A Dchs2–/– mouse model has been examined and has defects in hypothalamic-pituitary development, but the phenotype is not consistent with the human condition.Created: 15 Sep 2022, 2:36 p.m. | Last Modified: 15 Sep 2022, 2:36 p.m.
Panel Version: 2.23
Comment on phenotypes: This Mondo term is a general description and not specific to a conidition associated with DCHS2 variants.Created: 15 Sep 2022, 1:35 p.m. | Last Modified: 15 Sep 2022, 1:35 p.m.
Panel Version: 2.18
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Lodge EJ, Xekouki P, Silva TS, Kochi C, Longui CA, Faucz FR, Santambrogio A, Mills JL, Pankratz N, Lane J, Sosnowska D, Hodgson T, Patist AL, Francis-West P, Helmbacher F, Stratakis C, Andoniadou CL.JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310.Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PSIS
Tag watchlist tag was added to gene: DCHS2.
Gene: dchs2 has been classified as Amber List (Moderate Evidence).
Gene: dchs2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: DCHS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCHS2 were set to 29165578; 33108146
Phenotypes for gene: DCHS2 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to pituitary stalk interruption syndrome, MONDO:0019828
Phenotypes for gene: DCHS2 were changed from to pituitary stalk interruption syndrome, MONDO:0019828
Publications for gene: DCHS2 were set to
gene: DCHS2 was added gene: DCHS2 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: DCHS2 was set to