Structural eye disease
Gene: SPINT2
hirabayashi: one case with unilateral coloboma and other dysmorphic features; salomon one case (out of 46) with optic nerve colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; 270420
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). hirabayashi: one case with unilateral coloboma and other dysmorphic features; salomon one case (out of 46) with optic nerve colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420
Publications
Source NHS GMS was added to SPINT2. Added phenotypes DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420 for gene: SPINT2 Publications for gene SPINT2 were changed from 29575628; 24142340 to 29575628; 24142340,
gene: SPINT2 was added gene: SPINT2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINT2 were set to 29575628; 24142340 Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420; congenital sodium diarrhea with additional features; optic nerve coloboma