Congenital adrenal hypoplasia

Gene: TBX19

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: 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.

Red List (low evidence)

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