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  2. Ocular coloboma
  3. SPINT2
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Ocular coloboma

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: 2 cases of congenital sodium diarrhea (CSD) with ocular coloboma, but second variant wasn't identified in the 2014 paper (PMID:24142340).
Created: 2 Oct 2018, 4:01 p.m.
PMID:29575628 (Hirabayashi et al 2018) present a child with congenital sodium diarrhea, bilateral cleft lip and palate, corneal erosions, optic nerve coloboma and intermittent exotropia who was found to have compound heterozygous variants in SPINT2 (c.488A>G/p.Tyr163Cys and c.166_167dupTA/p.Asn57Thrfs*24). This is second reported case of an optic nerve coloboma associated with a SPINT2 variant: Salomon et al. (2014, PMID:24142340) reported a patient with optic nerve coloboma. The patient was heterozygous for Tyr163Cys but a second SPINT2 variant was not identified.
Sources: Literature
Created: 2 Oct 2018, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 3, secretory sodium, congenital, syndromic, 270420; optic nerve coloboma; congenital sodium diarrhea with additional features

Publications

Created: 2 Oct 2018, 3:56 p.m.

Panel version: 1.17

Details

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

History Filter Activity

2 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: spint2 has been classified as Red List (Low Evidence).

2 Oct 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: SPINT2 was added gene: SPINT2 was added to Ocular coloboma. Sources: Literature 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; optic nerve coloboma; congenital sodium diarrhea with additional features