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Newborns main panel

Gene: SPINT2

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 15 Oct 2025, 2:50 p.m. | Last Modified: 15 Oct 2025, 2:50 p.m.
Panel Version: 0.480
Created: 15 Oct 2025, 2:50 p.m.
Last Modified: 15 Oct 2025, 2:50 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36123503 - 1 case and review of 9 other cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Diarrhoea 3, secretory sodium, congenital, syndromic
Tags
special_consideration condition_removed
OMIM
605124
Clinvar variants
Variants in SPINT2
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: spint2 has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SPINT2. Tag condition_removed tag was added to gene: SPINT2.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic to Diarrhoea 3, secretory sodium, congenital, syndromic

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 3, secretory sodium, congenital, syndromic for gene: SPINT2

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SPINT2. Added phenotypes Diarrhea 3, secretory sodium, congenital, syndromic for gene: SPINT2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SPINT2. Added phenotypes Diarrhea 3, secretory sodium, congenital, syndromic for gene: SPINT2 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SPINT2 was added gene: SPINT2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic