Pituitary hormone deficiency

Gene: FAT2

I don't know

Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the moment, however, if additional FAT2 variants are reported to be associated with pituitary stalk interruption syndrome, this rating may change.

Created: 20 Sep 2022, 10:21 a.m. | Last Modified: 20 Sep 2022, 10:21 a.m.

Panel Version: 2.66

Not associated with a pituitary phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports four FAT2 variants in four unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants (rs1024234841) is synonymous and in silico tools do not predict an effect on splicing and another variant (rs377026428) is digenic with a DCHS2 variant and so its contribution to disease causation is uncertain.

Created: 20 Sep 2022, 10:18 a.m. | Last Modified: 20 Sep 2022, 10:18 a.m.

Panel Version: 2.65

Comment on phenotypes: In the context of the Pituitary hormone deficiency panel, the Mondo term: pituitary stalk interruption syndrome (MONDO:0019828) could be applied, however, this Mondo term is a general description and is not specific to a conidition associated with FAT2 variants.

Created: 20 Sep 2022, 9:46 a.m. | Last Modified: 20 Sep 2022, 9:46 a.m.

Panel Version: 2.64

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
PITUITARY STALK INTERRUPTION SYNDROME