| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v1.465 | TMEM17 | Chirag Patel Classified gene: TMEM17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.465 | TMEM17 | Chirag Patel Gene: tmem17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.464 | TMEM17 | Chirag Patel Phenotypes for gene: TMEM17 were changed from Meckel syndrome MONDO:0018921; TMEM17-related to Meckel syndrome MONDO:0018921, TMEM17-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.463 | TMEM17 | Chirag Patel Publications for gene TMEM17 were changed from 41054827, 40841990 to 41054827, 40841990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.462 | TMEM17 |
Chirag Patel edited their review of gene: TMEM17: Added comment: 2 additional unrelated fetuses with clinical diagnosis of Meckel-Gruber syndrome (occipital encephalocele, polydactyly, and kidney cysts). WES identified a founder homozygous missense variant (Arg94Trp) in TMEM17 gene. Comprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. The study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling.; Changed rating: GREEN; Changed publications: 41054827, 40841990 |
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| Fetal anomalies v1.405 | TMEM17 | Zornitza Stark Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.404 | TMEM17 | Zornitza Stark reviewed gene: TMEM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 40841990; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.387 | TMEM17 | Zornitza Stark Marked gene: TMEM17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.387 | TMEM17 | Zornitza Stark Gene: tmem17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.386 | TMEM17 | Chirag Patel Classified gene: TMEM17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.386 | TMEM17 | Chirag Patel Gene: tmem17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.385 | TMEM17 |
Chirag Patel gene: TMEM17 was added gene: TMEM17 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM17 were set to Pre-print: Clinical Genetics, 2025; 0:1–7 Phenotypes for gene: TMEM17 were set to Meckel syndrome MONDO:0018921; TMEM17-related Review for gene: TMEM17 was set to AMBER Added comment: 4 fetuses (TOP/deceased) from 4 consanguineous unrelated families with a clinical diagnosis of Meckel-Gruber syndrome. Clinical features includes: encephalocele (4/4), enlarged/cystic kidneys (4/4), and postaxial polydactyly (1/4). WES identified 3 homozygous variants (p.(Glu2Serfs*58); p.(Pro123Thrfs*9); and p.(Pro123Arg)). They also reported a 5th consanguineous family with 3 affected fetuses with clinical diagnosis of Meckel-Gruber syndrome. Both parents were heterozygote carriers of a TMEM17 variant (p.(Glu2Serfs*58)) but biological material from the fetuses was not available. No functional studies performed. However, TMEM17 is a critical component of a protein complex in the basal body at the base of cilia. Knockdown of Tmem17 via small interfering RNA has been shown to have a modest effect on cilia formation, but significantly reduces the amount of the somatostatin receptor Sstr3 (182453) that localizes to cilia. Sources: Literature |
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