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

1 review

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

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