PanelApp
  1. Genes and Genomic Entities
  2. SPINT2

SPINT2

serine peptidase inhibitor, Kunitz type 2
OMIM: 605124, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SPINT2 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.23

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

Green SPINT2 in Mendeliome


Version 1.3499

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

Green SPINT2 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.296

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    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 0.110

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

    Green SPINT2 in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.6

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

    Green SPINT2 in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Diarrhoea 3, secretory sodium, congenital, syndromic - MIM#270420
    • congenital secretory sodium diarrhea 3 - MONDO#0010036

    Green SPINT2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

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