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  2. Intestinal failure or congenital diarrhoea
  3. SPINT2
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Intestinal failure or congenital diarrhoea

Gene: SPINT2

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

3 reviews

Eleanor Williams (Genomics England Curator)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Miranda Durkie (Genetics)

Green List (high evidence)

PMID: 19185281 - found 10 families with congenital sodium diarrhea and recessive loss-of-function mutations
PMID: 24142340 - found 12 families with Congenital tufting enteropathy and SPINT2 mutations
Created: 25 Jan 2019, 5:21 p.m.

Phenotypes
congenital sodium diarrhea; Congenital tufting enteropathy

Publications

Created: 25 Jan 2019, 5:21 p.m.

Panel version: 0.16

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SPINT2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 10:52 a.m.
Created: 8 Jan 2019, 10:52 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
OMIM
605124
Clinvar variants
Variants in SPINT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPINT2 were changed from congenital sodium diarrhea; Congenital tufting enteropathy to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420

5 Feb 2019, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SPINT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

5 Feb 2019, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Feb 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPINT2 were changed from to congenital sodium diarrhea; Congenital tufting enteropathy

5 Feb 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SPINT2 were set to

8 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to SPINT2. Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SPINT2 was added gene: SPINT2 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: SPINT2 was set to