Pituitary hormone deficiency

Gene: TGIF1

Amber List (moderate evidence)

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

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

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

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 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

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: TGIF1. Tag Q3_22_NHS_review tag was added to gene: TGIF1.

20 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tgif1 has been classified as Amber List (Moderate Evidence).

20 Sep 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tgif1 has been classified as Amber List (Moderate Evidence).

20 Sep 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TGIF1 were set to 23476075

20 Sep 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TGIF1 were changed from Holoprosencephaly 4 (142946) to Holoprosencephaly 4,OMIM:142946; holoprosencephaly 4, MONDO:0007734

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)