SPINT2:Ensemblv115

serine peptidase inhibitor, Kunitz type 2
OMIM: 605124, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SPINT2 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic 270420
  • MONDO:0010036
Tags
  • founder

Green SPINT2 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420
  • MONDO:0010036
Tags
  • founder

Green SPINT2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)

Green SPINT2 in Choanal atresia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420
  • MONDO:0010036
Tags
  • founder

Green SPINT2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#270420