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Mendeliome

Gene: TMPRSS15

Green List (high evidence)

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, 12:13 a.m. | Last Modified: 5 Jan 2021, 12:13 a.m.
Panel Version: 0.5933

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enterokinase deficiency, MIM# 226200

Publications

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

History Filter Activity

5 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmprss15 has been classified as Green List (High Evidence).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMPRSS15 were changed from to Enterokinase deficiency, MIM# 226200

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMPRSS15 were set to

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMPRSS15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMPRSS15 was added gene: TMPRSS15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMPRSS15 was set to Unknown