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| Renal tubulopathies v6.9 | TFCP2L1 | Ida Ertmanska Classified gene: TFCP2L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v6.9 | TFCP2L1 | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated families reported in literature where individuals harbouring biallelic TFCP2L1 variants presented with early-onset kidney dysfunction diagnosed as renal tubulopathy (among other less specific findings). Tfcp2l1-deficient mice showed defects in renal duct maturation. Taken together, there is enough evidence to promote this gene to Green at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v6.9 | TFCP2L1 | Ida Ertmanska Gene: tfcp2l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v6.8 | TFCP2L1 | Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: TFCP2L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v6.8 | TFCP2L1 | Ida Ertmanska edited their review of gene: TFCP2L1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v6.8 | TFCP2L1 | Ida Ertmanska edited their review of gene: TFCP2L1: Changed publications to: 17079272, 33097957, 40569305, 42362802 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v6.8 | TFCP2L1 |
Ida Ertmanska changed review comment from: PMID: 42362802 Chaurasia et al., 2026 Family 22 - 2 sibs with exon 1-2 deletion in TFCP2L1; presentation: microcrephaly, CKD (diagnosis of renal tubulopathy), SNHL. Seq method: exome seq. PMID: 40569305 Graña et al., 2025 'Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants' Study described a consanguineous preterm male infant with advanced kidney dysfunction and severe renal salt-wasting, suggestive of Bartter syndrome. Follow-up showed severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. No cataracts or seizures seen in this patient. He was homozygous for TFCP2L1 (NM_014553.3):c.1279 del; p.(Gln427Serfs*18)). Method: WES. PMID: 33097957 Klämbt et al., 2021 Report of a 4yo female patient (B2033-21) from a consanguineous Arabic Yemeni family, harbouring a homozygous TFCP2L1 variant c.869del, p. Ser290Phefs*50. Method: WES. Parents confirmed het. Patient presented with echogenic kindeys and CKD developed before 2 months of age; ESRD age 3.5 years, hypochloremic, hypokalemic alkalosis, small echogenic kidneys. In addition, she had cataracts, seizures, developmental delay, hypotonia. TFCP2L1 is not yet associated with a disease in OMIM, Gene2Phenotype, or ClinGen (accessed 27th July 2026). Sources: Literature; to: PMID: 42362802 Chaurasia et al., 2026 Family 22 - 2 sibs with exon 1-2 deletion in TFCP2L1; presentation: microcrephaly, CKD (diagnosis of renal tubulopathy), SNHL. Seq method: exome seq. PMID: 40569305 Graña et al., 2025 'Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants' Study described a consanguineous preterm male infant with advanced kidney dysfunction and severe renal salt-wasting, suggestive of Bartter syndrome. Follow-up showed severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. No cataracts or seizures seen in this patient. He was homozygous for TFCP2L1 (NM_014553.3):c.1279 del; p.(Gln427Serfs*18)). Method: WES. PMID: 33097957 Klämbt et al., 2021 Report of a 4yo female patient (B2033-21) from a consanguineous Arabic Yemeni family, harbouring a homozygous TFCP2L1 variant c.869del, p. Ser290Phefs*50. Method: WES. Parents confirmed het. Patient presented with echogenic kindeys and CKD developed before 2 months of age; ESRD age 3.5 years, hypochloremic, hypokalemic alkalosis, small echogenic kidneys. In addition, she had cataracts, seizures, developmental delay, hypotonia. FUNCTIONAL EVIDENCE: PMID: 17079272 Yamaguchi, Yonemura, & Takada, 2006 TFCP2L1 is required for the maturation of the ducts of the salivary gland and kidney, as it coordinates the expression of several genes that are involved in physiological function and generate the appropriate cellular architecture. In Cp2l1-deficient mice, the expression of genes directly involved in functional maturation of the ducts was specifically reduced in both the salivary gland and kidney. Furthermore, the composition of saliva and urine was abnormal in these mice. Tfcp2l1−/− mice were evaluated for urinary excretion of electrolytes and showed a urinary potassium loss similar to patient B2033-21 in PMID: 33097957. TFCP2L1 is not yet associated with a disease in OMIM, Gene2Phenotype, or ClinGen (accessed 27th July 2026). Sources: Literature |
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| Renal tubulopathies v6.8 | TFCP2L1 |
Ida Ertmanska gene: TFCP2L1 was added gene: TFCP2L1 was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: TFCP2L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFCP2L1 were set to 33097957; 40569305; 42362802 Phenotypes for gene: TFCP2L1 were set to chronic kidney disease, MONDO:0005300; Renal tubular dysfunction, HP:0000124 Review for gene: TFCP2L1 was set to AMBER Added comment: PMID: 42362802 Chaurasia et al., 2026 Family 22 - 2 sibs with exon 1-2 deletion in TFCP2L1; presentation: microcrephaly, CKD (diagnosis of renal tubulopathy), SNHL. Seq method: exome seq. PMID: 40569305 Graña et al., 2025 'Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants' Study described a consanguineous preterm male infant with advanced kidney dysfunction and severe renal salt-wasting, suggestive of Bartter syndrome. Follow-up showed severe polyuria; episodes of hyponatremia, hypokalemia, and hypochloremia; and metabolic alkalosis and hyperuricemia. No cataracts or seizures seen in this patient. He was homozygous for TFCP2L1 (NM_014553.3):c.1279 del; p.(Gln427Serfs*18)). Method: WES. PMID: 33097957 Klämbt et al., 2021 Report of a 4yo female patient (B2033-21) from a consanguineous Arabic Yemeni family, harbouring a homozygous TFCP2L1 variant c.869del, p. Ser290Phefs*50. Method: WES. Parents confirmed het. Patient presented with echogenic kindeys and CKD developed before 2 months of age; ESRD age 3.5 years, hypochloremic, hypokalemic alkalosis, small echogenic kidneys. In addition, she had cataracts, seizures, developmental delay, hypotonia. TFCP2L1 is not yet associated with a disease in OMIM, Gene2Phenotype, or ClinGen (accessed 27th July 2026). Sources: Literature |
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