| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Unexplained young onset end-stage renal disease v0.153 | TMEM216 | Eleanor Williams Classified gene: TMEM216 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.153 | TMEM216 | Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.153 | TMEM216 | Eleanor Williams Gene: tmem216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.152 | TMEM216 | Eleanor Williams Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.151 | TMEM216 | Eleanor Williams Publications for gene: TMEM216 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.150 | TMEM216 | Eleanor Williams Phenotypes for gene: TMEM216 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 2 608091; Meckel syndrome 2 603194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | TMEM216 | Eleanor Williams reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | TMEM216 |
Eleanor Williams gene: TMEM216 was added gene: TMEM216 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM216 was set to Unknown Phenotypes for gene: TMEM216 were set to Ciliopathy genes associated with cystic kidney disease |
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