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| Cystic kidney disease v8.15 | TMEM17 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: TMEM17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.15 | TMEM17 | Ida Ertmanska Classified gene: TMEM17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.15 | TMEM17 | Ida Ertmanska Added comment: Comment on list classification: There are at least 9 unrelated individuals (3 surviving individuals and 6 fetal cases) reported with biallelic TMEM17 variants and evidence of a multisystem ciliopathy (molar tooth sign, features supporting a diagnosis of Meckel syndrome, Joubert syndrome). More than 3 unrelated individuals had polycystic kidneys, as well as other renal findings. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.15 | TMEM17 | Ida Ertmanska Gene: tmem17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v8.14 | TMEM17 |
Ida Ertmanska gene: TMEM17 was added gene: TMEM17 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM17 were set to 26982032; 32055034; 40841990; 41054827 Phenotypes for gene: TMEM17 were set to Meckel syndrome, MONDO:0018921; orofaciodigital syndrome type 6, MONDO:0010176; Joubert syndrome, MONDO:0018772 Review for gene: TMEM17 was set to GREEN Added comment: PMID: 26982032 Li et al., 2016 Homozygous missense mutation reported in TMEM17 (p.Asn102Lys) in two siblings (both male, 20 yrs and 36yrs old whose clinical profile is consistent with Oral-Facial-Digital type 6 syndrome. Both patients had polydactyly, psychomotor delay; cerebellar hypoplasia and molar tooth sign also noted on brain imaging (see S2 table). Fibroblasts from a TMEM17-mutated sibling displayed a much reduced ability to form cilia compared to cells from the healthy heterozygous mother. PMID: 32055034 Shamseldin et al., 2020 Homozygous variant NM_198276:c.302G > T; p.Gly101Val detected in a child with Joubert syndrome. PMID: 40841990 Boutaud et al., 2025 Report of two unrelated fetuses with occipital encephalocele, polydactyly, and kidney cysts. Exome sequencing identified a founder homozygous missense variant c.280C>T, p.(Arg94Trp) in TMEM17. Both diagnosed with Meckel syndrome (severe ciliopathy). PMID: 41054827 Pardo et al., 2025 Four unrelated patients were identified with a clinical diagnosis of Meckel-Gruber syndrome (MGS) - a severe, lethal ciliopathy - and novel homozygous TMEM17 variants: NM_198276.3 c.4del p.(Glu2Serfs*58); c.366dup p.(Pro123Thrfs*9); and c.368C>G p.(Pro123Arg). Severe prenatal phenotype: encephalocele, polycystic kidney dysplasia, and polydactyly, leading to early lethality. This gene is not yet associated with a phenotype in OMIM, G2P, or ClinGen (accessed 22nd Apr 2026). Sources: Literature |
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