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Limb disorders

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 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag: require further evidence for a diagnostic rating.
Created: 11 Oct 2018, 9:38 a.m.
Comment on list classification: Updated rating from Red to Amber. 2 cases from literature where congenital diarrhea (CSD) presents with hexadactyly. Need more evidence before rating as diagnostic.
Created: 11 Oct 2018, 9:37 a.m.
PMID:19185281 (Heinz-Erian et al., 2009) reviewed data from a large cohort of CSD patients (n = 24).1 Swedish female patient with syndromic CSD had a homozygous SPINT2 allele (c.488A→G, p.Y163C) and presented with an extra digit on her right hand.
Created: 2 Oct 2018, 3:11 p.m.
In 9 children from 7 families with MIM:270420, Salomon et al. (2014, PMID:24142340) identified either homozygosity for the Y163C mutation in SPINT2 or compound heterozygosity for Y163C and another variant in SPINT2. One of the patients (an Italian boy) exhibited additional hexadactyly.
Created: 2 Oct 2018, 3:05 p.m.
Comment on phenotypes: Biallelic, loss of function mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea (CSD) which can (rarely) include hexadactyly.
Created: 2 Oct 2018, 3:05 p.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM and literature (PMIDs:19185281,24142340).
Created: 2 Oct 2018, 3:04 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420
  • hexadactyly
  • congenital sodium diarrhea with additional syndromic features
Tags
watchlist
OMIM
605124
Clinvar variants
Variants in SPINT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Comment on mode of inheritance

11 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

11 Oct 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: SPINT2.

11 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

4 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SPINT2 were set to 24142340; 19185281

4 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SPINT2 were changed from Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly; congenital sodium diarrhea with additional syndromic features

2 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SPINT2 were changed from Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly

2 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SPINT2 were changed from Polydactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly

2 Oct 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

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

2 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SPINT2 were set to

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SPINT2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SPINT2 was created by Ellen McDonagh