Pituitary hormone deficiency
Gene: TGIF1

TGIF1 (TGFB induced factor homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000177426
EnsemblGeneIds (GRCh37): ENSG00000177426
OMIM: 602630, Gene2Phenotype
TGIF1 is in 7 panels

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, sugget amber rating pending further evidence."
Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 4:48 p.m.

Panel Version: 2.106

Created: 31 Jan 2023, 3:01 p.m.
Last Modified: 31 Jan 2023, 4:48 p.m.
Panel version: 2.106

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review as there are three variants in three unrelated cases with pituitary involvement.
Created: 20 Sep 2022, 4:27 p.m. | Last Modified: 20 Sep 2022, 4:27 p.m.

Panel Version: 2.80

Associated with Holoprosencephaly 4 (OMIM:142946) and as definitive Gen2Phen gene for Holoprosencephaly. An association between TGIF1 and pituitary hormone deficiency has only been made with three variants in three unrelated cases (PMIDs: 23476075;34440302).
Created: 20 Sep 2022, 4:26 p.m. | Last Modified: 20 Sep 2022, 4:27 p.m.

Panel Version: 2.80

Created: 20 Sep 2022, 4:02 p.m.
Last Modified: 20 Sep 2022, 4:27 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. Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR.Genes (Basel). 2021 Jul 25;12(8):1128. doi: 10.3390/genes12081128.PMID:34440302
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
HYPOPITUITARISM, HOLOPROSENCEPHALY

Publications

34440302

Created: 14 Sep 2022, 4:44 p.m.
Last Modified: 14 Sep 2022, 4:44 p.m.
Panel version: 2.15

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.

Created: 12 Dec 2018, 1:09 p.m.

Panel version: 0.34

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center
UKGTN

Phenotypes

Holoprosencephaly 4,OMIM:142946
holoprosencephaly 4, MONDO:0007734

OMIM

602630

Clinvar variants

Variants in TGIF1

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: TGIF1. Tag Q3_22_NHS_review was removed from gene: TGIF1.

20 Sep 2022, Gel status: 2