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| Paediatric disorders - additional genes v8.30 | SLC20A1 | Ida Ertmanska edited their review of gene: SLC20A1: Changed phenotypes to: bladder exstrophy-epispadias-cloacal exstrophy complex, MONDO:0700039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.30 | SLC20A1 | Ida Ertmanska Classified gene: SLC20A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.30 | SLC20A1 | Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported with heterozygous SLC20A1 missense variants and urogenital malformations consistent with a bladder exstrophy-epispadias-cloacal exstrophy complex. This association is supported by functional studies in zebrafish and expression studies in a human embryo. There is also one individual reported with a homozygous frameshift variant, with multiple congenital anomalies. Hence, this gene can be promoted to Green on Paediatric disorders - additional genes, with MOI set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted', until more evidence emerges for the biallelic association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.30 | SLC20A1 | Ida Ertmanska Gene: slc20a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.29 | SLC20A1 | Ida Ertmanska Phenotypes for gene: SLC20A1 were changed from to bladder exstrophy-epispadias-cloacal exstrophy complex, MONDO:0700039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v8.28 | SLC20A1 |
Ida Ertmanska gene: SLC20A1 was added gene: SLC20A1 was added to Paediatric disorders - additional genes. Sources: Literature Q4_26_promote_green tags were added to gene: SLC20A1. Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to 27013921; 32850778; 41906789 Review for gene: SLC20A1 was set to GREEN Added comment: PMID: 41906789 Koumakis et al., 2026 Report of a child patient with a homozygous SLC20A1 variant c.674_675delAA; p.K225TfsX34, with multiple congenital anomalies including tetralogy of Fallot, right renal agenesis, postaxial polydactyly, growth impairment, and developmental delay. Parents are healthy adults that are first cousins of Ashkenazi Jewish descent. Seq method: exome sequencing. PMID: 32850778 Rieke et al., 2020 Sequencing of 690 individuals with bladder exstrophy-epispadias complex identified two additional monoallelic variants in SLC20A1. A het de novo variant c.893T > C (p.Val298Ala) was identified in a female proband with classic bladder exstrophy, and one additional SLC20A1 variant was detected in an affected mother who transmitted variant c.1321A>C (p.Lys441Gln) to her affected son with classic bladder exstrophy (maternal phenotype: fusion defect of pelvic bone, mild phenotype). Functional evidence: Morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a caused kidney cysts and malformations of the cloaca. Authors also performed immunohistochemistry of an unaffected 6-week-old human embryo and detected SLC20A1 in the urinary tract and the abdominal midline. PMID: 27013921 Reutter et al., 2016 Bladder-Exstrophy-Epispadias Complex (BEEC) cohort. WES detected a de novo het variant c.709G>A, (p.Gly237Arg) in a female proband (Patient 407) with omphalocele, anal atresia, tethered cord, lipoma, atrial septal defect, duplex kidney (right), sacrum dysgenesis. SLC20A1 is not yet associated with a disease entity in OMIM, G2P, or ClinGen (accessed 5th Nov 2026). Sources: Literature |
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