SPINT2

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SPINT2 in Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Version 1.16	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 Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.3 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 1.47	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
Red SPINT2 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	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