Limb disorders
Gene: SPINT2Added '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.
Rebecca Foulger: Comment on mode of inheritance
Gene: spint2 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SPINT2.
Gene: spint2 has been classified as Amber List (Moderate Evidence).
Publications for gene: SPINT2 were set to 24142340; 19185281
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
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
Phenotypes for gene: SPINT2 were changed from Polydactyly to Polydactyly; Diarrhea 3, secretory sodium, congenital, syndromic, 270420; hexadactyly
Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to
SPINT2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
SPINT2 was created by Ellen McDonagh