SPINT2

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SPINT2 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.0

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 2.0

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 1.0

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 1.0

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 2.0

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 2.0

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 3.0

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