Pituitary hormone deficiency

Gene: TBX19

Green List (high evidence)

TBX19 (T-box 19)
EnsemblGeneIds (GRCh38): ENSG00000143178
EnsemblGeneIds (GRCh37): ENSG00000143178
OMIM: 604614, Gene2Phenotype
TBX19 is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:06 p.m.
Comment on list classification: Promoted from amber to green. TBX19 is confirmed to be associated with Adrenocorticotropic hormone deficiency in OMIM but not in Gene2Phenotype. It is also a green gene in the Congenital adrenal hypoplasia (Version 1.7) panel. There are >3 unrelated cases of patients with variants in TBX19 in OMIM.
Created: 8 Jan 2019, 1:39 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenocorticotropic hormone deficiency (201400)
OMIM
604614
Clinvar variants
Variants in TBX19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx19 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TBX19 were set to

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx19 has been classified as Green List (High Evidence).

10 Dec 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: TBX19 was added gene: TBX19 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400)