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Gene: TBX19

Green List (high evidence)

TBX19 (T-box 19)
EnsemblGeneIds (GRCh38): ENSG00000143178
EnsemblGeneIds (GRCh37): ENSG00000143178
OMIM: 604614, Gene2Phenotype
TBX19 is in 6 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Congenital isolated adrenocorticotropic hormone deficiency (IAD) is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases, prolonged cholestatic jaundice, and very low plasma ACTH levels with no significant response to corticotropin-releasing hormone.

HGNC approved symbol/name: TBX19
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, Hydrocortisone
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 4 Mar 2025, 12:19 a.m. | Last Modified: 4 Mar 2025, 12:19 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenocorticotropic hormone deficiency, MIM# 201400

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Adrenocorticotropic hormone deficiency, 201400 (3)
OMIM
604614
Clinvar variants
Variants in TBX19
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBX19 was added gene: TBX19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)