Pituitary hormone deficiency
Gene: TCF7L1After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence, suggest amber rating pending further evidence."Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 4:47 p.m.
Panel Version: 2.106
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 26764381 investigated congenital hypopituitarism in mice and humans, they report and characterize two TCF7L1 variants in two unrelated cases. The authors conclude that their data supports a conserved molecular function of TCF7L1 as a transcriptional repressor during hypothalamo–pituitary axis development in mammals and identifies variants in this transcription factor that are likely to contribute to the etiology of congenital hypopituitarism.Created: 20 Sep 2022, 5:09 p.m. | Last Modified: 20 Sep 2022, 5:09 p.m.
Panel Version: 2.80
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu CI, Bancalari RE, Rahikkala E, Veijola R, Lopponen T, Graziola F, Turton J, Signore M, Mousavy Gharavy SN, Charolidi N, Sokol SY, Andoniadou CL, Wilson SW, Merrill BJ,Dattani MT, Martinez-Barbera JP.Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):E548-57. doi: 10.1073/pnas.1503346113. Epub 2016 Jan 13.PMID:26764381Created: 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
SEPTO-OPTIC DYSPLASIA
Publications
Comment on list classification: Promoted from red to amber. TCF7L1 is not associated with any phenotypes in OMIM or Gene2Phenotype. There is one study reporting a patient with septo-optic dysplasia with a missense variant in TCF7L1 who also has growth hormone deficiency. In vitro studies support that this variant reduced TCF7L1 protein function.Created: 12 Dec 2018, 12:55 p.m.
Tag Q3_22_rating was removed from gene: TCF7L1. Tag Q3_22_NHS_review was removed from gene: TCF7L1.
Tag Q3_22_rating tag was added to gene: TCF7L1. Tag Q3_22_NHS_review tag was added to gene: TCF7L1.
Ivone Leong: Comment on list classification
Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TCF7L1 were changed from No OMIM number to No OMIM number; pituitary hormone deficiency
Mode of inheritance for gene: TCF7L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF7L1 were set to
gene: TCF7L1 was added gene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Literature Mode of inheritance for gene: TCF7L1 was set to Unknown Phenotypes for gene: TCF7L1 were set to No OMIM number