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| Renal Ciliopathies and Nephronophthisis v1.48 | TMEM72 | Zornitza Stark Marked gene: TMEM72 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.48 | TMEM72 | Zornitza Stark Gene: tmem72 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.48 | TMEM72 | Zornitza Stark Classified gene: TMEM72 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.48 | TMEM72 | Zornitza Stark Gene: tmem72 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.47 | TMEM72 |
Zornitza Stark gene: TMEM72 was added gene: TMEM72 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature Mode of inheritance for gene: TMEM72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM72 were set to 41308066 Phenotypes for gene: TMEM72 were set to Nephronophthisis, MONDO:0019005, TMEM72-related Review for gene: TMEM72 was set to AMBER Added comment: PMID 41308066 reports nine individuals from six families with biallelic TMEM72 variants. However, families A-C share same variant and haplotype, suggestive of a found effect. Further, the variant is p.Gln2*, which likely escapes NMD. Clinical presentation was nephronophthisis‑like kidney disease with adult‑onset kidney failure, hypertension and polyuria. One family (F) had homozygous missense variant, p.Gly124Ser, and showed prenatal‑onset cystic kidney disease, vesicoureteral reflux and early epilepsy. Functional studies demonstrate reduced TMEM72 expression and ciliary localisation. Concerns about the quality of the genetic and experimental data, hence Amber rating. Sources: Literature |
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