Intestinal failure or congenital diarrhoea

Gene: TMPRSS15

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.

Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Created: 12 Apr 2021, 1:18 p.m. | Last Modified: 12 Apr 2021, 1:18 p.m.

Panel Version: 1.35

Green List (high evidence)

Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen and has a major role in protein digestion, is an autosomal recessive disorder characterised by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhoea, and generalized oedema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued. Three unrelated families reported with molecularly confirmed diagnosis.
Sources: Expert Review

Created: 5 Jan 2021, 12:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enterokinase deficiency, MIM# 226200

Publications

• 11719902
• 33061943

Variants in this GENE are reported as part of current diagnostic practice