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