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| Renal Ciliopathies and Nephronophthisis v0.298 | TMEM216 | Zornitza Stark Marked gene: TMEM216 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.298 | TMEM216 | Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.298 | TMEM216 | Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.297 | TMEM216 | Zornitza Stark Publications for gene: TMEM216 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.296 | TMEM216 | Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.295 | TMEM216 |
Zornitza Stark changed review comment from: p.Arg73Leu is a founder Jewish variant. Multiple families reported with JBTS and with Meckel syndrome.; to: p.Arg73Leu is a founder Jewish variant. Multiple families reported with JBTS and with Meckel syndrome. Renal involvement common in Meckel. |
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| Renal Ciliopathies and Nephronophthisis v0.0 | TMEM216 |
Zornitza Stark gene: TMEM216 was added gene: TMEM216 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TMEM216 was set to Unknown |
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