1. Genes and Genomic Entities
  2. SPINT2

SPINT2

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SPINT2 in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic 270420
Amber SPINT2 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polydactyly
    • Diarrhea 3, secretory sodium, congenital, syndromic, 270420
    • hexadactyly
    • congenital sodium diarrhea with additional syndromic features
    Tags
    • watchlist
    Green SPINT2 in Intestinal failure or congenital diarrhoea


    Level 2: Gastrohepatology
    Version 3.7
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
    Red SPINT2 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Diarrhea 3, secretory sodium, congenital, syndromic, 270420
    • optic nerve coloboma
    • congenital sodium diarrhea with additional features
    Green SPINT2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
    • congenital secretory sodium diarrhea 3, MONDO:0010036
    Red SPINT2 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420
    • congenital sodium diarrhea with additional features
    • optic nerve coloboma
    • Diarrhea 3, secretory sodium, congenital, syndromic, 270420