TFCP2L1
HGNC:17925 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in TFCP2L1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 2 | 2 |
| renal failure | — | 2 | 2 |
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| arthrogryposis | — | 1 | 1 |
Linked variants
Variants normalized to TFCP2L1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 20 | 1 |
| Not specified | — | 51 | 1 |
Supporting publications
2 records- 2026Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.European journal of human genetics : EJHGPubMed ↗
- 2021Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationPubMed ↗