Limb disorders
Gene: SPINT2EnsemblGeneIds (GRCh38): ENSG00000167642
EnsemblGeneIds (GRCh37): ENSG00000167642
OMIM: 605124, Gene2Phenotype
SPINT2 is in 6 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
- OMIM
- 605124
- Clinvar variants
- Variants in SPINT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Rebecca Foulger: Comment on mode of inheritance
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: spint2 has been classified as Amber List (Moderate Evidence).
Added Tag
Rebecca Foulger (Genomics England curator)Tag watchlist tag was added to gene: SPINT2.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: spint2 has been classified as Amber List (Moderate Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: SPINT2 were set to 24142340; 19185281
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
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
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
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: SPINT2 were set to
Added New Source
Ellen McDonagh (Genomics England Curator)SPINT2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)SPINT2 was created by Ellen McDonagh