Pituitary hormone deficiency

Gene: TCF7L1

Amber List (moderate evidence)

TCF7L1 (transcription factor 7 like 1)
EnsemblGeneIds (GRCh38): ENSG00000152284
EnsemblGeneIds (GRCh37): ENSG00000152284
OMIM: 604652, Gene2Phenotype
TCF7L1 is in 1 panel

4 reviews

Catherine Snow (Genomics England)

After 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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Eleanor Williams (Genomics England Curator)

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:26764381
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
SEPTO-OPTIC DYSPLASIA

Publications

Ivone Leong (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • No OMIM number
  • pituitary hormone deficiency
OMIM
604652
Clinvar variants
Variants in TCF7L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 2

Removed Tag, Removed Tag

Catherine Snow (Genomics England)

Tag Q3_22_rating was removed from gene: TCF7L1. Tag Q3_22_NHS_review was removed from gene: TCF7L1.

20 Sep 2022, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: TCF7L1. Tag Q3_22_NHS_review tag was added to gene: TCF7L1.

30 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).

12 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).

12 Dec 2018, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TCF7L1 were changed from No OMIM number to No OMIM number; pituitary hormone deficiency

12 Dec 2018, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TCF7L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TCF7L1 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: 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