Genetic Epilepsy

Gene: TBX19

Green List (high evidence)

Well-established gene-disease association with congenital isolated ACTH deficiency. Affected individuals can present with seizures in conjunction with hypoglycaemia and cholestasis.

Although this gene is not associated with primary epilepsy and is a primary pituitary disorder, early detection and prompt institution of glucocorticoid treatment is vital to lower the risk of recurrent hypoglycemia and uncontrolled epilepsy. As patients can present with seizures, inclusion in this panel may aid timely diagnosis of this rare but treatable disorder.
Sources: Expert list, Literature

Created: 11 Oct 2021, 12:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenocorticotropic hormone deficiency - 201400

Publications

• 31998673

Green List (high evidence)

All variant types reported were consistent with loss of function, some showed DNA-binding defects (OMIM).

Created: 6 Apr 2020, 3:10 a.m. | Last Modified: 6 Apr 2020, 3:10 a.m.

Panel Version: 0.2013

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenocorticotropic hormone deficiency, 201400

Publications

• 15613420
• 15613420