Intestinal failure or congenital diarrhoeaGene: 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
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
Enterokinase deficiency, MIM# 226200
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: TMPRSS15.
Source Expert Review Green was added to TMPRSS15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tmprss15 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: TMPRSS15.
Phenotypes for gene: TMPRSS15 were changed from Enterokinase deficiency, MIM# 226200 to Enterokinase deficiency, OMIM:226200
gene: TMPRSS15 was added gene: TMPRSS15 was added to Intestinal failure. Sources: Expert Review Mode of inheritance for gene: TMPRSS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMPRSS15 were set to 11719902; 33061943 Phenotypes for gene: TMPRSS15 were set to Enterokinase deficiency, MIM# 226200 Review for gene: TMPRSS15 was set to GREEN gene: TMPRSS15 was marked as current diagnostic