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Prepair 1000+

Gene: SPINT2

Green List (high evidence)

SPINT2 (serine peptidase inhibitor, Kunitz type 2)
EnsemblGeneIds (GRCh38): ENSG00000167642
EnsemblGeneIds (GRCh37): ENSG00000167642
OMIM: 605124, Gene2Phenotype
SPINT2 is in 7 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Onset typically in first 2 weeks of life. Intractable diarrhoea due to defective sodium/hydrogen exchange, can be lethal. Can also be associated with choanal or anal atresia, hypertelorism, and corneal erosions.
Y163C suggested founder mutation.
Created: 5 Mar 2025, 6:03 a.m. | Last Modified: 5 Mar 2025, 6:03 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
OMIM
605124
Clinvar variants
Variants in SPINT2
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPINT2 was added gene: SPINT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)