Congenital Diarrhoea
Gene: TMPRSS15

TMPRSS15 (transmembrane protease, serine 15)
EnsemblGeneIds (GRCh38): ENSG00000154646
EnsemblGeneIds (GRCh37): ENSG00000154646
OMIM: 606635, Gene2Phenotype
TMPRSS15 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Created: 5 Jan 2021, 12:10 a.m. | Last Modified: 5 Jan 2021, 12:10 a.m.

Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enterokinase deficiency, MIM# 226200

Publications

Created: 5 Jan 2021, 12:10 a.m.
Last Modified: 5 Jan 2021, 12:10 a.m.
Panel version: 0.44

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Enterokinase deficiency, MIM# 226200

OMIM

606635

Clinvar variants

Variants in TMPRSS15

Penetrance

None

Publications

Panels with this gene