Pituitary hormone deficiency
Gene: TGIF1After 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
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
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:34440302Created: 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
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.
Tag Q3_22_rating was removed from gene: TGIF1. Tag Q3_22_NHS_review was removed from gene: TGIF1.
Tag Q3_22_rating tag was added to gene: TGIF1. Tag Q3_22_NHS_review tag was added to gene: TGIF1.
Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Publications for gene: TGIF1 were set to 23476075
Phenotypes for gene: TGIF1 were changed from Holoprosencephaly 4 (142946) to Holoprosencephaly 4,OMIM:142946; holoprosencephaly 4, MONDO:0007734
Ivone Leong: Comment on list classification
Gene: tgif1 has been classified as Red List (Low Evidence).
Publications for gene: TGIF1 were set to
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)