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  3. SPINT2
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Structural eye disease

Gene: SPINT2

Red List (low evidence)
SPINT2 (serine peptidase inhibitor, Kunitz type 2)
EnsemblGeneIds (GRCh38): ENSG00000167642
EnsemblGeneIds (GRCh37): ENSG00000167642
OMIM: 605124, Gene2Phenotype
SPINT2 is in 6 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

hirabayashi: one case with unilateral coloboma and other dysmorphic features; salomon one case (out of 46) with optic nerve coloboma
Created: 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

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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 coloboma
Created: 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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
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
OMIM
605124
Clinvar variants
Variants in SPINT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

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,

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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