Congenital adrenal hypoplasia
Gene: TBX19As 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: 5 Feb 2019, 1:52 p.m.
Comment on list classification: Discussed internally with Clinical Geneticists and agreed that this should be green; congenital adrenal hypoplasia can present in this way.Created: 6 Feb 2017, 2:28 p.m.
Comment on list classification: >3 families/cases reported, with different variants.Created: 2 Feb 2017, 2:28 p.m.
This gene was previously named "TPIT".Created: 2 Feb 2017, 2:28 p.m.
Usually causes isolated ACTH insufficiency. Therefore, ACTH should be low, if measured. Sometimes there can be diagnostic uncertainty and overlap with primary congenital adrenal hypoplasia, so it is worth considering in the differential diagnosis.Created: 7 Dec 2015, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated ACTH insufficiency
06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for TBX19 were set to 16390921 (TPIT); 15613420 (TPIT); 15525497 (TPIT)
Publications for TBX19 were set to 16390921 (TPIY);15613420 (TPIT);15525497 (TPIT)
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for TBX19 were set to Isolated ACTH insufficiency;Adrenocorticotropic hormone deficiency 201400
This proposed gene was validated and added to this panel
Phenotypes for gene TBX19 were set to Isolated ACTH insufficiency
TBX19 was added to Congenital adrenal hypoplasiapanel. Sources: Expert list
TBX19 was created by John Achermann