Pituitary hormone deficiency

Gene: TGIF1

Red List (low evidence)

TGIF1 (TGFB induced factor homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000177426
EnsemblGeneIds (GRCh37): ENSG00000177426
OMIM: 602630, Gene2Phenotype
TGIF1 is in 8 panels

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from amber to red. TGIF1 is confirmed to be associated with Holoprosencephaly 4 in OMIM and Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with holoprosencephaly who has a missense variant in TGIF1.
Created: 12 Dec 2018, 1:09 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • UKGTN
Phenotypes
  • Holoprosencephaly 4 (142946)
OMIM
602630
Clinvar variants
Variants in TGIF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

12 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tgif1 has been classified as Red List (Low Evidence).

12 Dec 2018, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TGIF1 were set to

7 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TGIF1 was added gene: TGIF1 was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946)